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...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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 
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: The American Society of Human Genetics 2007
Θέματα:
Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1785350/
https://ncbi.nlm.nih.gov/pubmed/17236138
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