Article
Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.
The Journal of clinical endocrinology and metabolism - 1 Apr 2012
Ferrara Alfonso Massimiliano, Onigata Kazumichi, Ercan Oya, Woodhead Helen, Weiss Roy E, Refetoff Samuel
Abstract excerpt
CONTEXT: The most common cause of resistance to thyroid hormone (RTH) is heterozygous thyroid hormone receptor β (THRB) gene mutations. Homozygous mutations in the THRB gene are a rare event. OBJECTIVE: In this study, the clinical findings of three new patients (belonging to two families) homozygous for mutations in the THRB gene are compared to three other families in which affected individuals lack a normal...
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