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

Volumn 80, Issue 2, 2007, Pages 338-344

  Tekin, Mustafa ^a,c   Hişmi, Burcu Öztürk ^a   Fitoz, Suat ^a   Özdaǧ, Hilal ^a   Cengiz, Filiz Başak ^a   Sirmaci, Asli ^a   Aslan, Idil ^a   Inceoǧlu, Bora ^a   Yüksel Konuk, E Berrin ^a   Yilmaz, Seda Taşir ^a   Yasun, Öztan ^b   Akar, Nejat ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b ANKARA NUMUNE HOSPITAL   (Turkey)

^c Ankara Numune Hospital ^*  (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 3; GENOMIC DNA;

APLASIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 11; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL DEAFNESS; FAMILY HISTORY; FGF3 GENE; GENE; GENE MUTATION; HUMAN; INCIDENCE; INNER EAR MALFORMATION; MALFORMATION SYNDROME; MICHEL APLASIA; MICRODONTIA; MICROTIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PENETRANCE; PERCEPTION DEAFNESS; PETROUS BONE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TURKEY (REPUBLIC);

EID: 33846615392     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/510920     Document Type: Article

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