Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital nongoitrous hypothyroidism 5

Congenital nongoitrous hypothyroidism 6 is an autosomal dominant disorder caused by mutations of the NKX2-5 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
NKX2-5
Congenital nongoitrous hypothyroidism 6

References:

1.

Dentice M et al. (2006) Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.

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2.

OMIM.ORG article

Omim 225250 [^]
Update: April 29, 2019