Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis.

Ewelina Szczepanek-ParulskaBartłomiej BudnyMartyna BorowczykKatarzyna ZawadzkaPaweł SztromwasserMarek Ruchała

Published in: Endocrine (2020)

We demonstrated for the first time a unique association of THA phenotype and the presence of compound heterozygous mutations p.[Gly727Arg];[Gln1347Lys] of GLI3 gene in two siblings.

Keyphrases

copy number
early onset
intellectual disability
genome wide
genome wide identification
dna methylation
gene expression