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

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 diagnosed by neona...

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Detalles Bibliográficos
Autores principales: Fu, Chunyun, Zheng, Haiyang, Zhang, Shujie, Chen, Yun, Su, Jiasun, Wang, Jin, Xie, Bobo, Hu, Xuyun, Fan, Xin, Luo, Jingsi, Li, Chuan, Chen, Rongyu, Shen, Yiping, Chen, Shaoke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118720/
https://www.ncbi.nlm.nih.gov/pubmed/26886089
http://dx.doi.org/10.1590/2359-3997000000108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118720/
https://www.ncbi.nlm.nih.gov/pubmed/26886089
http://dx.doi.org/10.1590/2359-3997000000108

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