Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital nongoitrous hypothyroidism 6

Congenital nongoitrous hypothyroidism 6 is an autosomal dominant disorder caused by mutations of the THRA gene.

Systematic

Congenital nongoitrous hypothyroidism
Congenital nongoitrous hypothyroidism 1
Congenital nongoitrous hypothyroidism 2
Congenital nongoitrous hypothyroidism 3
Congenital nongoitrous hypothyroidism 4
Congenital nongoitrous hypothyroidism 5
Congenital nongoitrous hypothyroidism 6
THRA

References:

1.

Bochukova E et al. (2012) A mutation in the thyroid hormone receptor alpha gene.

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2.

van Mullem A et al. (2012) Clinical phenotype and mutant TRα1.

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3.

Tylki-Szymańska A et al. (2015) Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

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4.

OMIM.ORG article

Omim 614450 [^]
Update: April 29, 2019