A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome  

作　　者：Ruo-Lan Gong Jing Wu Tong-Xin Chen 

机构地区：[1]Department of Allergy and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China [2]Division of Immunology, Institute of Pediatric Translational Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China

出　　处：《Chinese Medical Journal》2017年第23期2883-2884,共2页中华医学杂志（英文版）

基　　金：This research was supported by a grant from the National Natural Science Foundation of China （No. 81571605）.

摘　　要：Hajdu-Cheney syndrome （HCS） is a rare disorder which is characterized by developmental delay, craniofacial anomalies, congenital heart defects, hearing deficit, polycystic kidneys, and bone abnormalities, including progressive osteoporosis, acroosteolysis, wormian bones, and abnormal bonefractures.Hajdu-Cheney syndrome （HCS） is a rare disorder which is characterized by developmental delay, craniofacial anomalies, congenital heart defects, hearing deficit, polycystic kidneys, and bone abnormalities, including progressive osteoporosis, acroosteolysis, wormian bones, and abnormal bonefractures.

关 键 词：ACROOSTEOLYSIS Hajdu-Cheney Syndrome Notch homolog protein 2 gene OSTEOPOROSIS 

分 类 号：R2[医药卫生—中医学]