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...
Main Authors: | , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Brazilian Society of Endocrinology and Metabolism
2016-02-01
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Series: | Archives of Endocrinology and Metabolism |
Subjects: | |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972016000400323&lng=en&tlng=en |