Article
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.
Clinical genetics - 1 Jun 2008
Tekin M, Oztürkmen Akay H, Fitoz S, Birnbaum S, Cengiz F B, Sennaroğlu L, Incesulu A, Yüksel Konuk E B, Hasanefendioğlu Bayrak A, Sentürk S, Cebeci I, Utine G E, Tunçbilek E, Nance W E, Duman D
Abstract excerpt
Homozygous mutations in the fibroblast growth factor 3 (FGF3) gene have recently been discovered in an autosomal recessive form of syndromic deafness characterized by complete labyrinthine aplasia (Michel aplasia), microtia, and microdontia (OMIM 610706 - LAMM). In order to better characterize the phenotypic spectrum associated with FGF3 mutations, we sequenced the FGF3 gene in 10 unrelated families in which...
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