Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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2.

OMIM.ORG article

Omim 274900 [^]
Update: April 29, 2019