TSHR and thanatophoric dysplasia: Two previously unreported and clinically relevant genotypes, homozygous FOXE1 p.[Gly124Arg];[Gly124Arg] and compound heterozygous TSHR p.[Asp118Asn];[Trp422Arg], were found to account for 1.5% (N = 2/128) of the CH-TD patients, but further functional and segregation analyses are warranted.