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Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism

The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism (GCH) due to the coexistence of heterozygous mutations in the DUOX2 and DUOXA2 genes. The...

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Detalles Bibliográficos
Autores principales:	Zheng, Xiao, Ma, Shao-Gang, Guo, Man-Li, Qiu, Ya-Li, Yang, Liu-Xue
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Yonsei University College of Medicine 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447125/ https://www.ncbi.nlm.nih.gov/pubmed/28541007 http://dx.doi.org/10.3349/ymj.2017.58.4.888

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