Article
Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
BMC pediatrics - 25 Nov 2019
Mao Xiaojian, Liu Sichi, Lin Yunting, Chen Zhen, Shao Yongxian, Yu Qiaoli, Liu Haiying, Lu Zhikun, Sheng Huiyin, Lu Xinshuo, Huang Yonglan, Liu Li, Zeng Chunhua
Abstract excerpt
OBJECTIVE: Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP). It is subdivided into six forms depending on the age of onset: perinatal lethal, prenatal benign, infantile, childhood, adult, and odonto HPP. Among these, infantile HPP is characterized by early onset and high...
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