Acromesomelic dysplasia, Demirhan type

Definition:

Acromesomelic dysplasia with genital anomalies is a condition that shows severe limb malformation with brachydactyly. Hypogonadism is also present. It is caused by homozygous mutation of BMPR1B.

References:

[1]. O Demirhan, et al. A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. J Med Genet. 2005 Apr;42(4):314-7. [Content Brief]

[2]. S Mundlos, et al. The brachydactylies: a molecular disease family. Clin Genet. 2009 Aug;76(2):123-36. [Content Brief]

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