A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals | Zendy

Panudda Srichomkwun | Zendy; Osnat Admoni | Zendy; Samuel Refetoff | Zendy; Liat de Vries | Zendy

Open Access

A Novel Mutation (S54C) of the <b><i>PAX8</i></b> Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals

Author(s) -

Panudda Srichomkwun,

Osnat Admoni,

Samuel Refetoff,

Liat de Vries

Publication year - 2016

Publication title -

hormone research in paediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.816

H-Index - 89

eISSN - 1663-2826

pISSN - 1663-2818

DOI - 10.1159/000445891

Subject(s) - medicine , thyroid , endocrinology , pax8 , congenital hypothyroidism , biology , gene , genetics , transcription factor

Congenital hypothyroidism (CH) is a common endocrine disorder in newborns. The cause of CH is thyroid dysgenesis in 80-85% of patients. Paired box gene 8 (PAX8) is a thyroid transcription factor that plays an important role in thyroid organogenesis and development. To date, 22 different PAX8 gene mutations have been reported.

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