Little EM. Congenital absence or delayed development of the patella. Lancet. 25 Sep. 1897. 150:781-784.
Pascoe VL, Fenves AZ, Wofford J, Jackson JM, Menter A, Kimball AB. The spectrum of nephrocutaneous diseases and associations: Inflammatory and medication-related nephrocutaneous associations. J Am Acad Dermatol. 2016 Feb. 74 (2):247-70; quiz 271-2. [QxMD MEDLINE Link].
Louboutin L, Wascher D, Neyret P. Management of patellar problems in skeletally mature patients with nail-patella syndrome. Knee Surg Sports Traumatol Arthrosc. 2016 Feb 12. [QxMD MEDLINE Link].
Beguiristain JL, de Rada PD, Barriga A. Nail-patella syndrome: long term evolution. J Pediatr Orthop B. 2003 Jan. 12(1):13-6. [QxMD MEDLINE Link].
Gong Y, Yang C, Liu Y, Liu J, Qi X. Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report. Exp Ther Med. 2016 Jun. 11 (6):2361-2364. [QxMD MEDLINE Link].
Vanlerberghe C, Boutry N, Petit F. Genetics of patella hypoplasia/agenesis. Clin Genet. 2018 Jul. 94 (1):43-53. [QxMD MEDLINE Link].
Sweeney E, Hoover-Fong JE, McIntosh I, Pagon RA, Adam MP, Ardinger HH, et al. Nail-Patella Syndrome. 1993. [QxMD MEDLINE Link]. [Full Text].
Haras B, Vulpoi F, Onose G. A case of nail-patella syndrome associated with thyrotoxicosis. J Med Life. 2012 Feb 22. 5 (1):126-9. [QxMD MEDLINE Link].
Lemley KV. Kidney disease in nail-patella syndrome. Pediatr Nephrol. 2009 Dec. 24(12):2345-54. [QxMD MEDLINE Link].
Wright MJ, Ain MC, Clough MV, Bellus GA, Hurko O, McIntosh I. Achondroplasia and nail-patella syndrome: the compound phenotype. J Med Genet. 2000 Sep. 37(9):E25. [QxMD MEDLINE Link].
Figueroa-Silva O, Vicente A, Agudo A, Baliu-Piqué C, Gómez-Armayones S, Aldunce-Soto MJ, et al. Nail-patella syndrome: report of 11 pediatric cases. J Eur Acad Dermatol Venereol. 2016 Sep. 30 (9):1614-7. [QxMD MEDLINE Link].
Oshimo T, Fukai K, Higashi N, et al. A novel LMX1B nonsense mutation in a family with nail-patella syndrome. J Dermatol Sci. 2008 Oct. 52(1):57-60. [QxMD MEDLINE Link].
Sweeney E, Fryer A, Mountford R, Green A, McIntosh I. Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet. 2003 Mar. 40(3):153-62. [QxMD MEDLINE Link].
Dunston JA, Reimschisel T, Ding YQ, et al. A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression. Eur J Hum Genet. 2005 Mar. 13(3):330-5. [QxMD MEDLINE Link].
Bunjes BG, Fernandes MDCF. Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding. An Bras Dermatol. 2017 Mar-Apr. 92 (2):273-274. [QxMD MEDLINE Link].
Jansen T, Happe M, Luther H, Altmeyer P. [Nail-patella syndrome. Possible kidney failure as a complication]. MMW Fortschr Med. 2000 Nov 9. 142(45):50-1. [QxMD MEDLINE Link].
Agarwal S, Divecha C, Tullu MS, Deshmukh CT. A rare case of nephrotic syndrome: 'nailed' the diagnosis. J Postgrad Med. 2014 Apr-Jun. 60 (2):179-82. [QxMD MEDLINE Link].
Proesmans W, Van Dyck M, Devriendt K. Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. Nephrol Dial Transplant. 2009 Apr. 24(4):1335-8. [QxMD MEDLINE Link].
Anitha A, Vankalakunti M, Siddini V, Babu K, Bonu R, Ballal S. Type III collagen disorders: A case report and review of literature. Indian J Pathol Microbiol. 2016 Jan-Mar. 59 (1):75-7. [QxMD MEDLINE Link].
Figueroa-Silva O, Vicente A, Agudo A, Baliu-Piqué C, Gómez-Armayones S, Aldunce-Soto MJ, et al. Nail-patella syndrome: report of 11 pediatric cases. J Eur Acad Dermatol Venereol. 2016 Sep. 30 (9):1614-7. [QxMD MEDLINE Link].
Al-Dawsari N, Al-Mokhadam A, Al-Abdulwahed H, Al-Sannaa N. Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance. J Cutan Med Surg. 2015 Nov-Dec. 19 (6):595-9. [QxMD MEDLINE Link].
Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet. 1998 May. 19(1):47-50. [QxMD MEDLINE Link].
Lee BH, Cho TJ, Choi HJ, Kang HK, Lim IS, Park YH, et al. Clinico-genetic study of nail-patella syndrome. J Korean Med Sci. 2009 Jan. 24 Suppl:S82-6. [QxMD MEDLINE Link].
Dai JX, Johnson RL, Ding YQ. Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development. Dev Growth Differ. 2009 Apr. 51 (3):241-50. [QxMD MEDLINE Link].
Cross SH, Macalinao DG, McKie L, Rose L, Kearney AL, Rainger J, et al. A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected]. PLoS Genet. 2014 May. 10 (5):e1004359. [QxMD MEDLINE Link].
Negrisolo S, Carraro A, Fregonese G, Benetti E, Schaefer F, Alberti M, et al. Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?. Eur J Hum Genet. 2018 Nov. 26 (11):1708-1712. [QxMD MEDLINE Link].
Morimoto N, Nagahama K, Mori T, et al. A Novel LMX1B Variant Identified in a Patient Presenting with Severe Renal Involvement and Thin Glomerular Basement Membrane. Nephron. 2021. 145 (6):776-782. [QxMD MEDLINE Link].
Renwick JH, Lawler SD. Genetical linkage between the ABO and nail-patella loci. Ann Hum Genet. 1955 Jun. 19 (4):312-31. [QxMD MEDLINE Link].
Schleutermann DA, Bias WB, Murdoch JL, McKusick VA. Linkage of the loci for the nail-patella syndrome and adenylate kinase. Am J Hum Genet. 1969 Nov. 21 (6):606-30. [QxMD MEDLINE Link].
Burghardt T, Kastner J, Suleiman H, Rivera-Milla E, Stepanova N, Lottaz C, et al. LMX1B is essential for the maintenance of differentiated podocytes in adult kidneys. J Am Soc Nephrol. 2013 Nov. 24 (11):1830-48. [QxMD MEDLINE Link].
Witzgall R. Nail-patella syndrome. Pflugers Arch. 2017 Aug. 469 (7-8):927-936. [QxMD MEDLINE Link].
Bongers EM, Gubler MC, Knoers NV. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol. 2002 Sep. 17(9):703-12. [QxMD MEDLINE Link].
Bongers EM, Huysmans FT, Levtchenko E, et al. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet. 2005 Aug. 13(8):935-46. [QxMD MEDLINE Link].
Bongers EM, van Kampen A, van Bokhoven H, Knoers NV. Human syndromes with congenital patellar anomalies and the underlying gene defects. Clin Genet. 2005 Oct. 68(4):302-19. [QxMD MEDLINE Link].
Dunston JA, Hamlington JD, Zaveri J, et al. The human LMX1B gene: transcription unit, promoter, and pathogenic mutations. Genomics. 2004 Sep. 84(3):565-76. [QxMD MEDLINE Link].
Dunston JA, Lin S, Park JW, Malbroux M, McIntosh I. Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. Ann Hum Genet. 2005 Jan. 69:1-8. [QxMD MEDLINE Link].
Greenspan DS, Byers MG, Eddy RL, Cheng W, Jani-Sait S, Shows TB. Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome. Genomics. 1992 Apr. 12(4):836-7. [QxMD MEDLINE Link].
Heidet L, Bongers EM, Sich M, et al. In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys. Am J Pathol. 2003 Jul. 163(1):145-55. [QxMD MEDLINE Link].
Lin WD, Chen CP, Wang DY, Tsai FJ. Gene symbol: LMX1B. Disease: Nail-patella syndrome. Hum Genet. 2008 Oct. 124(3):295-6. [QxMD MEDLINE Link].
Lin Y, Zhao J, Chen S, et al. A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family. Bone. 2008 Sep. 43(3):591-5. [QxMD MEDLINE Link].
Marini M, Bongers EM, Cusano R, et al. Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome. Int J Mol Med. 2003 Jul. 12(1):79-82. [QxMD MEDLINE Link].
Marini M, Giacopelli F, Seri M, Ravazzolo R. Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome. Eur J Hum Genet. 2005 Jun. 13(6):789-92. [QxMD MEDLINE Link].
Midro AT, Panasiuk B, Tumer Z, et al. Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. Am J Med Genet A. 2004 Jan 15. 124A(2):179-91. [QxMD MEDLINE Link].
Verdich J. Nail--patella syndrome associated with renal failure requiring transplantation. Acta Derm Venereol. 1980. 60(5):440-3. [QxMD MEDLINE Link].
Naz G, Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, et al. FZD6 encoding the Wnt receptor frizzled-6 is mutated in autosomal-recessive nail dysplasia. Br J Dermatol. 2011 Dec 28. [QxMD MEDLINE Link].
Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, et al. A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. Genet Med. 2010 Jul. 12(7):431-9. [QxMD MEDLINE Link].
Khalifa O, Al-Sakati N, Al-Mane K, Balobaid A, Al-Hassnan ZN. Combined TSC1 and LMX1B mutations in a single patient. Clin Dysmorphol. 2014 Apr. 23(2):47-51. [QxMD MEDLINE Link].
Zhou TB, Xu HL, Qin YH, Lei FY, Huang WF, Drummen GP. LIM homeobox transcription factor 1B is associated with pro-fibrotic components and apoptosis in hypoxia/reoxygenation renal tubular epithelial cells. Apoptosis. 2014 Apr. 19(4):594-602. [QxMD MEDLINE Link].
McIntosh I, Dunston JA, Liu L, Hoover-Fong JE, Sweeney E. Nail patella syndrome revisited: 50 years after linkage. Ann Hum Genet. 2005 Jul. 69(Pt 4):349-63. [QxMD MEDLINE Link].
Bongers EM, Knoers NV. [From gene to disease; the nail-patella syndrome and the LMX1B gene]. Ned Tijdschr Geneeskd. 2003 Jan 11. 147(2):67-9. [QxMD MEDLINE Link].
Ghoumid J, Petit F, Holder-Espinasse M, Jourdain AS, Guerra J, Dieux-Coeslier A, et al. Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. Eur J Hum Genet. 2016 Jan. 24 (1):44-50. [QxMD MEDLINE Link].
Hall G, Lane B, Chryst-Ladd M, Wu G, Lin JJ, Qin X, et al. Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation. Sci Rep. 2017 Jan 6. 7:39933. [QxMD MEDLINE Link].
Mukai M, Fujita H, Umegaki-Arao N, Sasaki T, Yasuda-Sekiguchi F, Isojima T, et al. A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B. J Dermatol Sci. 2018 Apr. 90 (1):90-93. [QxMD MEDLINE Link].
Jones MC, Topol SE, Rueda M, Oliveira G, Phillips T, Spencer EG, et al. Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder. Genet Med. 2017 Oct. 19 (10):1179-1183. [QxMD MEDLINE Link].
Boyer O, Woerner S, Yang F, Oakeley EJ, Linghu B, Gribouval O. LMX1B mutations cause hereditary FSGS without extrarenal involvement. J Am Soc Nephrol. 2013 Jul. 24(8):1216-22. [QxMD MEDLINE Link].
Senguttuvan NB, Sivaraman A, Kandasamy D, Marimuthu K. Nail patella syndrome: a rare cause of renal failure in a young adult. Pan Afr Med J. 2011. 9:31. [QxMD MEDLINE Link]. [Full Text].
Kamath S, Bhagwandas K. Nail-patella syndrome with an emphasis on the risk of renal and ocular findings. Pediatr Dermatol. 2010 Jan-Feb. 27(1):95-7. [QxMD MEDLINE Link].
Curtis JJ, Bhathena D, Leach RP, Galla JH, Lucas BA, Luke RG. Goodpasture's syndrome in a patient with the Nail-Patella syndrome. Am J Med. 1976 Sep. 61(3):401-6. [QxMD MEDLINE Link].
Anitha A, Vankalakunti M, Siddini V, Babu K, Bonu R, Ballal S. Type III collagen disorders: A case report and review of literature. Indian J Pathol Microbiol. 2016 Jan-Mar. 59 (1):75-7. [QxMD MEDLINE Link].
Fong EE. "Iliac horns" (symmetrical bilateral central posterior iliac processes). A case report. Radiology. 1946. 47:517-8.
Goshen E, Schwartz A, Zilka LR, Zwas ST. Bilateral accessory iliac horns: pathognomonic findings in Nail-patella syndrome. Scintigraphic evidence on bone scan. Clin Nucl Med. 2000 Jun. 25(6):476-7. [QxMD MEDLINE Link].
Hennessey TA, Backman SB, Meterissian SH, Schricker T. Nail-Patella syndrome: a case report and anesthetic implications. Can J Anaesth. 2007 Oct. 54(10):835-9. [QxMD MEDLINE Link].
Lo Sicco K, Sadeghpour M, Ferris L. Nail-patella syndrome. J Drugs Dermatol. 2015 Jan. 14 (1):85-6. [QxMD MEDLINE Link].
Itin P. [Alterations in nails and teeth as a clue for genodermatoses]. Hautarzt. 2014 Jun. 65 (6):513-9. [QxMD MEDLINE Link].
Price A, Cervantes J, Lindsey S, Aickara D, Hu S. Nail-patella syndrome: clinical clues for making the diagnosis. Cutis. 2018 Feb. 101 (2):126-129. [QxMD MEDLINE Link].
Inamadar AC, Palit A. Nails: diagnostic clue to genodermatoses. Indian J Dermatol Venereol Leprol. 2012 May-Jun. 78(3):271-8. [QxMD MEDLINE Link].
Tong SY, Luk HM, Tong TM, Lo IF. The nail points to the diagnosis. Fong disease or hereditary osteo-onychodysplasia. Hong Kong Med J. 2015 Dec. 21 (6):573.e3-5. [QxMD MEDLINE Link].
Nandedkar-Thomas MA, Scher RK. An update on disorders of the nails. J Am Acad Dermatol. 2005 May. 52(5):877-87. [QxMD MEDLINE Link].
Neri I, Piccolo V, Balestri R, Piraccini BM, Patrizi A. Median nail damage in nail-patella syndrome associated with triangular lunulae. Br J Dermatol. 2015 Dec. 173 (6):1559-61. [QxMD MEDLINE Link].
Schneider SL, Tosti A. Tips to diagnose uncommon nail disorders. Dermatol Clin. 2015 Apr. 33 (2):197-205. [QxMD MEDLINE Link].
Dyer JA, Jourdan SJ, Dyer GA. Multiple triangular lunula unguis: a specific finding for the nail-patella syndrome. Mo Med. 2007 Nov-Dec. 104(6):506-8. [QxMD MEDLINE Link].
Daniel CR 3rd, Osment LS, Noojin RO. Triangular lunulae. A clue to nail-patella syndrome. Arch Dermatol. 1980 Apr. 116(4):448-9. [QxMD MEDLINE Link].
Tigchelaar S, Lenting A, Bongers EM, van Kampen A. Nail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey. Orthop Traumatol Surg Res. 2015 Dec. 101 (8):959-62. [QxMD MEDLINE Link].
Louboutin L, Wascher D, Neyret P. Management of patellar problems in skeletally mature patients with nail-patella syndrome. Knee Surg Sports Traumatol Arthrosc. 2017 Oct. 25 (10):3012-3016. [QxMD MEDLINE Link].
Duygun F, Sertkaya O, Aldemir C, Dogan A. Isolated unilateral absent patella and contralateral small patella. BMJ Case Rep. 2013. 2013:[QxMD MEDLINE Link].
Lippacher S, Mueller-Rossberg E, Reichel H, Nelitz M. Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature. Orthop Traumatol Surg Res. 2013 Oct. 99(6):749-54. [QxMD MEDLINE Link].
West JA, Louis TH. Radiographic findings in the nail-patella syndrome. Proc (Bayl Univ Med Cent). 2015 Jul. 28 (3):334-6. [QxMD MEDLINE Link].
Feingold M, Itzchak Y, Goodman RM. Ultrasound prenatal diagnosis of the Nail-Patella syndrome. Prenat Diagn. 1998 Aug. 18 (8):854-6. [QxMD MEDLINE Link].
Neill SC, Murphy CG, McElwain JP. A hypoplastic patella fracture in nail patella syndrome: a case report. J Med Case Rep. 2012. 6(1):196. [QxMD MEDLINE Link].
Granata A, Nori G, Ravazzolo R, et al. Nail-patella syndrome and renal involvement. Description of three cases and literature review. Clin Nephrol. 2008 May. 69(5):377-82. [QxMD MEDLINE Link].
Hawkins CF, Smith OE. Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns. Lancet. 1950 Apr 29. 1(6609):803-8. [QxMD MEDLINE Link].
Aboobacker IN, Krishnakumar A, Narayanan S, Hafeeque B, Gopinathan JC, Aziz F. Nail-Patella Syndrome: A Rare Cause of Nephrotic Syndrome in Pregnancy. Indian J Nephrol. 2018 Jan-Feb. 28 (1):76-78. [QxMD MEDLINE Link].
Hari P, Mantan M, Dinda A, Hari S, Bagga A. Steroid-responsive nephrotic syndrome in a patient with nail-patella syndrome. Pediatr Nephrol. 2006 Aug. 21(8):1197-9. [QxMD MEDLINE Link].
Cohen AH. Collagen Type III Glomerulopathies. Adv Chronic Kidney Dis. 2012 Mar. 19(2):101-6. [QxMD MEDLINE Link].
Nakata T, Ishida R, Mihara Y, Fujii A, Inoue Y, Kusaba T, et al. Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. BMC Nephrol. 2017 Mar 23. 18 (1):100. [QxMD MEDLINE Link].
Wofford J, Fenves AZ, Jackson JM, Kimball AB, Menter A. The spectrum of nephrocutaneous diseases and associations: Genetic causes of nephrocutaneous disease. J Am Acad Dermatol. 2016 Feb. 74 (2):231-44; quiz 245-6. [QxMD MEDLINE Link].
Albishri J. Arthropathy and proteinuria: nail-patella syndrome revisited. Ger Med Sci. 2014. 12:Doc16. [QxMD MEDLINE Link].
Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M. Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy. Pediatr Nephrol. 2016 Jul 23. [QxMD MEDLINE Link].
Konomoto T, Imamura H, Orita M, Tanaka E, Moritake H, Sato Y, et al. Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation. Nephrology (Carlton). 2016 Sep. 21 (9):765-73. [QxMD MEDLINE Link].
Edwards N, Rice SJ, Raman S, Hynes AM, Srivastava S, Moore I, et al. A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'. Clin Kidney J. 2015 Feb. 8 (1):113-9. [QxMD MEDLINE Link].
Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M. Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy. Pediatr Nephrol. 2017 Oct. 32 (10):1845-1850. [QxMD MEDLINE Link].
Lichter PR, Richards JE, Downs CA, Stringham HM, Boehnke M, Farley FA. Cosegregation of open-angle glaucoma and the nail-patella syndrome. Am J Ophthalmol. 1997 Oct. 124 (4):506-15. [QxMD MEDLINE Link].
Nicolle P, Baudouin C, Brasnu E. [Nail-patella syndrome and glaucoma: A case report]. J Fr Ophtalmol. 2017 Feb. 40 (2):e51-e53. [QxMD MEDLINE Link].
Mimiwati Z, Mackey DA, Craig JE, et al. Nail-patella syndrome and its association with glaucoma: a review of eight families. Br J Ophthalmol. 2006 Dec. 90(12):1505-9. [QxMD MEDLINE Link].
Itin PH, Eich G, Fistarol SK. Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome. Dermatology. 2006. 213(2):153-5. [QxMD MEDLINE Link].
Edmunds MR, Kipioti A, Colloby PS, Reuser TT. A case of ectopic cilia in nail-patella syndrome. Int Ophthalmol. 2012 Jun. 32(3):289-92. [QxMD MEDLINE Link].
Waziri TM, Milants A, Bollineni VR, Maeseneer M. Hips Don't Lie: Fong Disease. J Belg Soc Radiol. 2017 Apr 26. 101 (1):23. [QxMD MEDLINE Link].
López-Arvizu C, Sparrow EP, Strube MJ, Slavin C, DeOleo C, James J, et al. Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function. Am J Med Genet B Neuropsychiatr Genet. 2011 Jan. 156B (1):59-66. [QxMD MEDLINE Link].
Bergman O, Westberg L, Nilsson LG, Adolfsson R, Eriksson E. Preliminary evidence that polymorphisms in dopamine-related transcription factors LMX1A, LMX1B and PITX3 are associated with schizophrenia. Prog Neuropsychopharmacol Biol Psychiatry. 2010 Aug 16. 34 (6):1094-7. [QxMD MEDLINE Link].
Nashelsky Zolotov L, Reinstein E. Schizophrenia and Nail Patella Syndrome: The Dopamine Connection. Isr Med Assoc J. 2018 Aug. 20 (8):496-498. [QxMD MEDLINE Link].
Goecke C, Mellado C, García C, García H. Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report. Rev Chil Pediatr. 2018 Feb. 89 (1):107-112. [QxMD MEDLINE Link].
Konrads C, Reppenhagen S, Plumhoff P, Rudert M, Steinert A, Barthel T. Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology. SICOT J. 2016. 2:26. [QxMD MEDLINE Link].
Tigchelaar S, Rooy Jd, Hannink G, Koëter S, van Kampen A, Bongers E. Radiological characteristics of the knee joint in nail patella syndrome. Bone Joint J. 2016 Apr. 98-B (4):483-9. [QxMD MEDLINE Link].
Pechman KJ, Bergfeld WF. Palmar-plantar hyperhidrosis occurring in a kindred with nail-patella syndrome. J Am Acad Dermatol. 1980 Dec. 3(6):627-32. [QxMD MEDLINE Link].
Smereczynski A, Gdakowicz B, Marcinkowska M. [A case of nail-patella syndrome]. Pol Tyg Lek. 1986 May 19. 41(20):662-3. [QxMD MEDLINE Link].
Towers AL, Clay CA, Sereika SM, McIntosh I, Greenspan SL. Skeletal integrity in patients with nail patella syndrome. J Clin Endocrinol Metab. 2005 Apr. 90(4):1961-5. [QxMD MEDLINE Link].
Álvarez-Martín N, Gamundi MJ, Hernan I, Carballo M, Luis-Yanes MI, García-Nieto V. Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described. Nefrologia. 2013. 33(4):585-6. [QxMD MEDLINE Link].
Koëter S, Tigchelaar S, Bongers E. Letter to the editor in reponse to Louboutin, Wascher, and Neyret in management of patellar problems in skeletally mature patients with nail-patella syndrome. KSSTA 2017 Oct;25(10):3012-3016. https://read.qxmd.com/doi/10.1007/s00167-016-4044-y. Epub 2016 Feb 12. Knee Surg Sports Traumatol Arthrosc. 2018 Mar 28. [QxMD MEDLINE Link].
Konomoto T, Imamura H, Orita M, Tanaka E, Moritake H, Sato Y, et al. Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation. Nephrology (Carlton). 2016 Sep. 21 (9):765-73. [QxMD MEDLINE Link].
Padmanabhan LD, Yesodharan D, Nampoothiri S. Prenatal diagnosis of nail patella syndrome: A case report. Indian J Radiol Imaging. 2017 Jul-Sep. 27 (3):329-331. [QxMD MEDLINE Link].
Morita T, Laughlin LO, Kawano K, Kimmelstiel P, Suzuki Y, Churg J. Nail-Patella syndrome. Light and electron microscopic studies of the kidney. Arch Intern Med. 1973 Feb. 131(2):271-7. [QxMD MEDLINE Link].
Heckman DS, McCoy AJ, Spritzer CE, Garrett WE. Intercondylar synovial septum in two patients with nail-patella syndrome. J Knee Surg. 2013 Dec. 26 Suppl 1:S107-11. [QxMD MEDLINE Link].
Konrads C, Reppenhagen S, Plumhoff P, Rudert M, Steinert A, Barthel T. Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology. SICOT J. 2016. 2:26. [QxMD MEDLINE Link].
Gong Y, Yang C, Liu Y, Liu J, Qi X. Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report. Exp Ther Med. 2016 Jun. 11 (6):2361-2364. [QxMD MEDLINE Link].
Curbo ME, Park KJ, Brown LD, Incavo SJ. Total knee arthroplasty in a patient with nail-patella syndrome (NPS). Knee. 2018 Nov 29. [QxMD MEDLINE Link].
Lachiewicz PF, Herndon CD. Total knee arthroplasty for osteoarthritis in hereditary onycho-osteodysplasia (nail-patella syndrome): a case report. Am J Orthop (Belle Mead NJ). 1997 Feb. 26 (2):129-30. [QxMD MEDLINE Link].
Serrano AF, Serrano PM. Total Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome - A Case Report. Int Med Case Rep J. 2021. 14:871-876. [QxMD MEDLINE Link]. [Full Text].
Elston DM, Peters J, Morrison WB. What is your diagnosis? Nail-patella syndrome. Cutis. 2000 Jul. 66(1):71, 75-6. [QxMD MEDLINE Link].