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Article

The Benefits of Whole-Exome Sequencing in the Differential Diagnosis of Hypophosphatasia.

International journal of molecular sciences - 31 Oct 2024

Glotov Oleg S, Zhuchenko Natalya A, Balashova Maria S, Raspopova Aleksandra N, Tsai Victoria V, Chernov Alexandr N, Chuiko Iana V, Danilov Lavrentii G, Morozova Lyudmila D, Glotov Andrey S

Abstract excerpt

Hypophosphatasia (HPP) is a rare inherited disorder characterized by the decreased activity of tissue-nonspecific alkaline phosphatase (TNSALP), caused by mutations in the ALPL gene. The aim of this study was to conduct differential diagnostics in HPP patients using whole-exome sequencing (WES). The medical records of HPP patients and the genetic testing of the ALPL gene were reviewed. Seven patients were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39519277
DOI: 10.3390/ijms252111728
PMCID: PMC11545870

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