ShuPing Liu Ting Zeng Cheng Luo DanXia Peng Xuan Xu Qin Liu Qiong Wu Qin Lu FuRong Huang
10.3389/fendo.2023.1113234
Front Endocrinol (Lausanne)
2023 Feb 24;14:1113234.
acth resistance chinese siblings fgd1 mc2r homozygous mutation
CC BY
https://pubmed.ncbi.nlm.nih.gov/36909322/
Glucocorticoids Receptor, Melanocortin, Type 2 / genetics
Glucocorticoids Receptor, Melanocortin, Type 2 / genetics Case Reports Research Support, Non-U.S. Gov't East Asian People Humans Mutation Glucocorticoids Receptor, Melanocortin, Type 2 Familial Glucocorticoid Deficiency 1
PMC10003339
36909322
A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report
2023