In this paper, we report two children with novel homozygous missense mutations in the GDF5 gene associated with brachydactyly type C: one mutation was within the region coding for the prodomain (c.608C&#8201;&gt;&#8201;A, which predicts p.Thr203Asn) and the other was within the region coding for the active domain (c.1456 G&#8201;&gt;&#8201;A, which predicts p.Val486Met).
C1862103
Brachydactyly type C