Article
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.
American journal of human genetics - 1 Feb 2007
Tekin Mustafa, Hişmi Burcu Oztürk, Fitoz Suat, Ozdağ Hilal, Cengiz Filiz Başak, Sirmaci Asli, Aslan Idil, Inceoğlu Bora, Yüksel-Konuk E Berrin, Yilmaz Seda Taşir, Yasun Oztan, Akar Nejat
Abstract excerpt
We identified nine individuals from three unrelated Turkish families with a unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia). We later demonstrated three different homozygous mutations (p.S156P, p.R104X, and p.V206SfsX117) in the fibroblast growth factor 3 (FGF3) gene in...
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