ACROOSTEOLYSIS

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相关期刊:《Chinese Medical Journal》更多>>
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A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome被引量:4
《Chinese Medical Journal》2017年第23期2883-2884,共2页Ruo-Lan Gong Jing Wu Tong-Xin Chen 
This research was supported by a grant from the National Natural Science Foundation of China (No. 81571605).
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 ...
关键词:ACROOSTEOLYSIS Hajdu-Cheney Syndrome Notch homolog protein 2 gene OSTEOPOROSIS 
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