Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.

@article{Ferrara2012HomozygousTH,
  title={Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.},
  author={Alfonso Massimiliano Ferrara and Kazumichi Onigata and Oya Ercan and Helen J. Woodhead and R E Weiss and Samuel Refetoff},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2012},
  volume={97 4},
  pages={1328-36}
}
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 TRβ. METHODS We conducted clinical studies and genetic analyses. RESULTS The… CONTINUE READING
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