A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome
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DOI: 10.4103/0366-6999.219141
Abstract: 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 bone fractures.[1]… read more here.
Keywords: chinese family; notch homolog; cheney syndrome; hajdu cheney ... See more keywords