Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report

Heterozygous loss-of-function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various congenital anomalies. A majority of patients with CHARGE syndr...

Source: BMC Endocrine Disorders - May 25, 2023 Category: Endocrinology Authors: Yoshinari Obata, Kana Takayama, Hideyuki Nishikubo, Aoki Tobimatsu, Izumi Matsuda, Yuhei Uehara, Yumiko Maruo, Hiroyuki Sho, Motohiro Kosugi and Tetsuyuki Yasuda Tags: Case report Source Type: research