Novel GLIS3 mutation in patient with neonatal diabetes mellitus and congenital hypothyroidism (NDH-syndrome)

Novel GLIS3 mutation in patient with neonatal diabetes mellitus and congenital hypothyroidism (NDH-syndrome)

Mutations in the GLIS3 gene encoding the GLIS3 transcription factor are cause of a rare syndromic form of neonatal diabetes mellitus (NDM) with congenital hypothyroidism. Additional features include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay and other anomalies. T...

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Main Authors: Yu. V. Tikhonovich, L. G. Chernich, I. N. Velikanov, V. M. Polyakova, E. V. Vasilyev, V. M. Petrov, E. V. Shreder, Е. V. Glavatskich, A. N. Tyulpakov
Format: Article
Language:English
Published: Endocrinology Research Centre 2022-03-01
Series:Сахарный диабет
Subjects:
neonatal diabetes mellitus
gene glis3
ndh-syndrome
congenital hypothyroidism
Online Access:https://www.dia-endojournals.ru/jour/article/view/12826
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