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Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism

BACKGROUND: The transcription factor paired box 8 (PAX8) was associated with type 2 congenital non-goitrous hypothyroidism (CHNG2), a clinical phenotype of congenital hypothyroidism (CH). Though studied in a few regions with different ethnicities, the incidence of PAX8 mutations varied, even among C...

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Detalles Bibliográficos
Autores principales: Qian, Fang, Li, Gui-Yu, Wu, Xiang-Jun, Jia, Qin, Lyu, Guan-Ting, Wang, Man-Li, Wang, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629355/
https://www.ncbi.nlm.nih.gov/pubmed/30888984
http://dx.doi.org/10.1097/CM9.0000000000000213