Hui-Chin Chiu

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BACKGROUND Osteogenesis imperfecta (OI) is a congenital disorder characterized by increased bone fragility and low bone mass. METHODS The presence of COL1A1 or COL1A2 mutation was investigated by direct sequencing in 72 patients with OI type I, III, or IV (27 males and 45 females; age range 0.2-62 years) from 37 unrelated families. The clinical features(More)
At the annual mucopolysaccharidosis (MPS) family meeting in Taiwan, more than 30 families gathered to network, exchange medical experiences, and provide support. Three families (Lee, Chang, and Chen) that originated from the northern and central parts of Taiwan and were not known to be related were surprised to learn that they all shared a common maternal(More)
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