Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia

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 dif...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Tekin, Mustafa , Hişmi, Burcu Öztürk , Fitoz, Suat , Özdağ, Hilal , Cengiz, Filiz Başak , Sırmacı, Aslı , Aslan, İdil , İnceoğlu, Bora , Yüksel-Konuk, E. Berrin , Yılmaz, Seda Taşır , Yasun, Öztan , Akar, Nejat 
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2007
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1785350/
https://ncbi.nlm.nih.gov/pubmed/17236138
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados