| 1 | BDA2, BMPR1B
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| Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.
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| Badura-Stronka M, Mróz D, Beighton P, Łukawiecki S, Wicher K, Latos-Bieleńska A, Kozłowski K.
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| Birth Defects Res A Clin Mol Teratol 103(6):567-72. doi: 10.1002/bdra.23354. Epub 2015 Mar 16.
2015
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| 2 | BMPR1B, BDC3, BDA2
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| A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
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| Lehmann K, Seemann P, Boergermann J, Morin G, Reif S, Knaus P, Mundlos S.
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| Eur J Hum Genet 14(12):1248-54. Epub 2006 Sep 6. 2006
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| 3 | BDA2, BMPR1B
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| Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
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| Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Suring K, Majewski F, Tinschert S, Grzeschik KH, Muller D, Knaus P, Nurnberg P, Mundlos S.
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| Proc Natl Acad Sci U S A 100(21):12277-82. Epub 2003 Oct 01. 2003
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