Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

ABSTRACT Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnose...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Chunyun Fu, Haiyang Zheng, Shujie Zhang, Yun Chen, Jiasun Su, Jin Wang, Bobo Xie, Xuyun Hu, Xin Fan, Jingsi Luo, Chuan Li, Rongyu Chen, Yiping Shen, Shaoke Chen
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Brazilian Society of Endocrinology and Metabolism 2016-02-01
Saila:Archives of Endocrinology and Metabolism
Gaiak:
Congenital hypothyroidism
Pendred syndrome
SLC26A4
gene mutations
China
Sarrera elektronikoa:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972016000400323&lng=en&tlng=en
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