Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Congenital nongoitrous hypothyroidism 6 is an autosomal dominant disorder caused by mutations of the THRA gene.
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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
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