Brachydactyly type A1, D is an autosomal dominant disorder caused by mutations of the BMPR1B gene. Characteristic is a shortage or even absence of middle phalanges of all digits. Patients exhibit a short stature and some other skeletal abnormalities.
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1. |
Racacho L et al. (2015) Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. ![]() |
2. |
OMIM.ORG article Omim 616849![]() |