Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.

Abstract

CONTEXT Congenital central hypothyroidism (C-CH) is a rare disease. We investigated the molecular basis of unexplained C-CH in 4 Japanese boys. PATIENTS AND METHODS C-CH was diagnosed by low free T4 and/or T3 and low basal TSH concentrations. We used whole-exome sequencing of one patient with C-CH to identify potential disease-causing mutations… (More)
DOI: 10.1210/jc.2013-1224

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@article{Nakamura2013ThreeNI, title={Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.}, author={Akie Nakamura and Beata Bąk and Tanya L R Silander and Jessica T Lam and Tomoyuki Hotsubo and Toru Yorifuji and Katsura Ishizu and Daniel J Bernard and Toshihiro Tajima}, journal={The Journal of clinical endocrinology and metabolism}, year={2013}, volume={98 10}, pages={E1682-91} }