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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Brazilian Society of Endocrinology and Metabolism 2016-02-01
Seri Bilgileri:Archives of Endocrinology and Metabolism
Konular:
Congenital hypothyroidism
Pendred syndrome
SLC26A4
gene mutations
China
Online Erişim:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972016000400323&lng=en&tlng=en
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