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Thyroid dyshormonogenesis 5

Thyroid dyshormonogenesis 5 is an autosomal recessive disorder of thyroid hormone production characterized by insufficient plasma hormone levels and goiter. It is caused by mutations of the DUOXA2 gene.

Systematic

Thyroid dyshormonogenesis
Pendred syndrome
Thyroid dyshormonogenesis 1
Thyroid dyshormonogenesis 2a
Thyroid dyshormonogenesis 3
Thyroid dyshormonogenesis 4
Thyroid dyshormonogenesis 5
DUOXA2
Thyroid dyshormonogenesis 6

References:

1.

Zamproni I et al. (2008) Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.

external link
2.

OMIM.ORG article

Omim 274900 external link
Update: Aug. 14, 2020
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