Article

Two Novel Mutations in the ALPL gene of Unrelated Chinese Children with Hypophosphatasia: Case Reports and Literature Review

2019-10-25

Abstract excerpt

<title>Abstract</title> <p>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 b...

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Literature Corpus work: 1bdd3ff8-0928-50a0-a9f1-54561b2c4ce4
DOI: 10.21203/rs.2.12359/v3

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