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Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4

OBJECTIVE: Congenital central hypothyroidism (CCH) is a rare disorder poorly described in childhood and adolescence. The current knowledge on the genetic bases of CCH is scarce. The purpose of this study was to analyze the clinical characteristics and molecular genetic basis of CCH in children. METH...

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Detalles Bibliográficos
Autores principales: Fu, Chunyun, Luo, Jingsi, Su, Jiasun, Zhang, Shujie, Yang, Qi, Zhang, Yue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422988/
https://www.ncbi.nlm.nih.gov/pubmed/37576911
http://dx.doi.org/10.2147/IJGM.S421382