Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults

Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults

Hypophosphatasia (HPP) is an inherited disease caused by <i>ALPL</i> mutation, resulting in decreased alkaline phosphatase (ALP) activity and damage to bone and tooth mineralization. The clinical symptoms of adult HPP are variable, making diagnosis challenging. This study aims to clarify...

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Bibliographic Details
Main Authors: Xiang Li, Na Ren, Ziyuan Wang, Ya Wang, Yunqiu Hu, Weiwei Hu, Jiemei Gu, Wei Hong, Zhenlin Zhang, Chun Wang
Format: Article
Language:English
Published: MDPI AG 2023-04-01
Series:Genes
Subjects:
hypophosphatasia
<i>ALPL</i>
mutations
China
adult
Online Access:https://www.mdpi.com/2073-4425/14/4/922

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https://www.mdpi.com/2073-4425/14/4/922

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