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

Panudda Srichomkwun,Osnat Admoni,Samuel Refetoff,Liat de Vries

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

2016

Panudda Srichomkwun
Osnat Admoni
Samuel Refetoff
Liat de Vries

Background: Congenital hypothyroidism (CH) is a common endocrine disorder in newborns. The cause of CH is thyroid dysgenesis in 80-85% of patients. Paired box gen

Keywords:

Thyroid
PAX8
Thyroid dysgenesis
Internal medicine
Endocrinology
Congenital hypothyroidism
Endocrine system
Diabetes mellitus
Congenital hyperinsulinism
Mutation
Medicine
Gene

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