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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Brazilian Society of Endocrinology and Metabolism 2016-02-01
श्रृंखला:Archives of Endocrinology and Metabolism
विषय:
ऑनलाइन पहुंच:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972016000400323&lng=en&tlng=en
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