Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis.
Ewelina Szczepanek-ParulskaBartłomiej BudnyMartyna BorowczykKatarzyna ZawadzkaPaweł SztromwasserMarek RuchałaPublished 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.