A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature.

Yabin KangDongye HeYanying LiYanhong ZhangQian ShaoMei ZhangDongye He

Published in: Molecular genetics & genomic medicine (2019)

A heterozygous point mutation of AKNRD11 gene was identified in a Chinese patient with short stature phenotype. The patient was treated effectively with GH supplementation.

Keyphrases

case report
early onset
growth hormone