Article
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.
American journal of medical genetics. Part A - 1 Jul 2015
Al-Qattan Mohammad M, Al-Motairi Muhammed I, Al Balwi Mohammed A
Abstract excerpt
Mutations of the GDF5 gene cause a variable phenotype including brachydactyly type C. A review of the literature showed that it is caused either by heterozygous frameshift mutations within the prodomain or heterozygous missense/nonsense mutations within the active domain. Only a single patient with a homozygous mutation (c.517A > G, which predicts p. Met173Val) has been reported in this disorder. In this paper,...
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