Article

Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Children

2020-11-06

Abstract excerpt

<h4>Background: </h4> Hypophosphatasia (HPP) is a rare inherited disorder, which is caused by loss-of-function mutations in the ALPL gene. HPP is a heterogeneous disease that has a wide spectrum of phenotypes. Few studies were carried out in the Chinese population with HPP, especially in children. <h4>Methods: </h4>: The clinical and genetic characteristics of 10 Chinese children with HPP who were referred to the...

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Literature Corpus work: ad166caa-2e66-53a0-8e9d-a404229304cc
DOI: 10.21203/rs.3.rs-101212/v1

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