| 1 | FGF10, PAPPAS, PTLAH, RSPO2, TBX4
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| Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
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| Kariminejad A, Szenker-Ravi E, Lekszas C, Tajsharghi H, Moslemi AR, Naert T, Tran HT, Ahangari F, Rajaei M, Nasseri M, Haaf T, Azad A, Superti-Furga A, Maroofian R, Ghaderi-Sohi S, Najmabadi H, Abbaszadegan MR, Vleminckx K, Nikuei P, Reversade B.
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| Am J Hum Genet 105(6):1294-1301. doi: 10.1016/j.ajhg.2019.10.013. Epub 2019 Nov 21.
2019
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| 2 | DLG4, PTLAH
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| Small patella syndrome: New clinical and molecular insights into a consistent phenotype.
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| Vanlerberghe C, Jourdain AS, Dieux A, Toutain A, Callewaert B, Dupuis-Girod S, Unger S, Wright M, Isidor B, Ghoumid J, Petit F, Boutry N, Escande F, Manouvrier-Hanu S.
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| Clin Genet 92(6):676-678. doi: 10.1111/cge.13103. No abstract available.
2017
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| 3 | NPS1, PTLAH, DSBQS, LRS1, EDM2, EDM4
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| Human syndromes with congenital patellar anomalies and the underlying gene defects.
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| Bongers EM, van Kampen A, van Bokhoven H, Knoers NV.
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| Clin Genet 68(4):302-19. 2005
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| 4 | PTLAH, TBX4
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| Mutations in the Human TBX4 Gene Cause Small Patella Syndrome.
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| Bongers EM, Duijf PH, Van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, Van Bokhoven H.
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| Am J Hum Genet 74(6):1239-48. Epub 2004 Apr 21. 2004
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| 5 | PTLAH
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| The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome.
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| Bongers EM, Van Bokhoven H, Van Thienen MN, Kooyman MA, Van Beersum SE, Boetes C, Knoers NV, Hamel BC.
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| J Med Genet 38(3):209-14. No abstract available. 2001
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| 6 | PTLAH
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| Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.
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| Mangino M, et al.
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| Am J Hum Genet 65(2):441-7. 1999
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| 7 | PTLAH
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| Familial aplasia or hypoplasia of the patella.
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| Braun HS.
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| Clin Genet 13 : 350-352. 1978
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| 8 | PTLAH
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| Familial absence of the patella.
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| Bernhang AM, et al.
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| J Bone Joint Surg 55 : 1088-1090. 1973
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