Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review

• Main Authors: Xiaojian Mao (Author), Sichi Liu (Author), Yunting Lin (Author), Zhen Chen (Author), Yongxian Shao (Author), Qiaoli Yu (Author), Haiying Liu (Author), Zhikun Lu (Author), Huiyin Sheng (Author), Xinshuo Lu (Author), Yonglan Huang (Author), Li Liu (Author), Chunhua Zeng (Author)
• Format: Book
• Published: BMC, 2019-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 b...