Article
Clinical and genetic characteristics of hypophosphatasia in Chinese children.
Orphanet journal of rare diseases - 7 Apr 2021
Liu Meijuan, Liu Min, Liang Xuejun, Wu Di, Li Wenjing, Su Chang, Cao Bingyan, Chen Jiajia, Gong Chunxiu
Abstract excerpt
BACKGROUND: 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. METHODS: The clinical and genetic characteristics of 10 Chinese children with HPP who were referred to the Beijing Children's...
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