Two siblings with congenital central hypothyroidism caused by a novel mutation in the IGSF1 gene

Genetic defects in the immunoglobulin superfamily member 1(IGSF1) protein are the cause of congenital central hypothyroidism (C-CH). Here we report two Japanese siblings with C-CH due to a novel IGSF1 mutation. The youngest brother showed a failure to thrive, hypothermia, and neonatal icterus six da...

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Detalles Bibliográficos
Autores principales: Oguma, Makiko, Kobayashi, Mizuki, Yamazaki, Masayo, Yokoyama, Koji, Morikawa, Shuntaro, Yamaguchi, Takeshi, Yamagata, Takanori, Tajima, Toshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897585/
https://www.ncbi.nlm.nih.gov/pubmed/29662269
http://dx.doi.org/10.1297/cpe.27.95

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