期刊文献+
共找到1篇文章
< 1 >
每页显示 20 50 100
A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome 被引量:4
1
作者 Ruo-Lan Gong Jing Wu Tong-Xin Chen 《Chinese Medical Journal》 SCIE CAS CSCD 2017年第23期2883-2884,共2页
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 ... 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. 展开更多
关键词 acroosteolysis Hajdu-Cheney Syndrome Notch homolog protein 2 gene OSTEOPOROSIS
原文传递
上一页 1 下一页 到第
使用帮助 返回顶部