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Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect

Loss-of-function mutations of the PAX8 gene are considered to mainly cause congenital hypothyroidism (CH) due to thyroid hypoplasia. However, some patients with PAX8 mutation have demonstrated a normal-sized thyroid gland. Here we report a CH patient caused by a PAX8 mutation, which manifested as io...

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Bibliografiske detaljer
Main Authors: Jo, Wakako, Ishizu, Katsura, Fujieda, Kenji, Tajima, Toshihiro
Format: Artigo
Sprog:Inglês
Udgivet: SAGE-Hindawi Access to Research 2009
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2956980/
https://ncbi.nlm.nih.gov/pubmed/21048839
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4061/2010/619013
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