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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

A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome
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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.
出处 《Chinese Medical Journal》 SCIE CAS CSCD 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).
关键词 ACROOSTEOLYSIS Hajdu-Cheney Syndrome Notch homolog protein 2 gene OSTEOPOROSIS Acroosteolysis Hajdu-Cheney Syndrome Notch homolog protein 2 gene Osteoporosis
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