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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Clin Pediatr Endocrinol
Main Authors: Oguma, Makiko, Kobayashi, Mizuki, Yamazaki, Masayo, Yokoyama, Koji, Morikawa, Shuntaro, Yamaguchi, Takeshi, Yamagata, Takanori, Tajima, Toshihiro
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society for Pediatric Endocrinology 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5897585/
https://ncbi.nlm.nih.gov/pubmed/29662269
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.27.95
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados