Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.
Lofrano-Porto A, Barra GB, Nascimento PP, Costa PG, Garcia EC, Vaz RF, Batista AR, Freitas AC, Cherulli BL, Bahmad F Jr, Figueiredo LG, Neves FA, Casulari LA.
Lofrano-Porto A, et al. Among authors: barra gb.
Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1296-303. doi: 10.1590/s0004-27302008000800015.
Arq Bras Endocrinol Metabol. 2008.
PMID: 19169484