Pendred Syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 52, Issue 8, 2008, Pages 1296-1303

  Adriana, Lofrano Porto ^a,e   Barra, Gustavo B ^b   Nascimento, Paula P ^a   Costa, Patrícia G G ^b   Garcia, Érica C ^a   Vaz, Rodrigo F ^a   Batista, Ana R T ^a   De Freitas, Ana C R ^c   Cherulli, Bruno L B ^c   Bahmad Jr , Fayez ^a   Figueiredo, Larissa G ^d   Neves, Francisco A R ^a   Casulari, Luiz Augusto ^a  

^a UNIVERSITY OF BRASILIA   (Brazil)

^b Sabin Institute and Laboratory of Clinical Analysis   (Brazil)

^c University Hospital of Brasilia   (Brazil)

^d UNIVERSIDADE DO ESTADO DO AMAZONAS   (Brazil)

^e HOSPITAL UNIVERSITÁRIO DE BRASÍLIA   (Brazil)

Author keywords

Goiter; Pendrin; Sensorineural deafness

Indexed keywords

EID: 58849098013     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/s0004-27302008000800015     Document Type: Article

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