A novel missense variant of HS6ST2 gene in Paganini-Miozzo syndrome with a rare neurodevelopmental and Endocrine phenotypes

A novel missense variant of HS6ST2 gene in Paganini-Miozzo syndrome with a rare neurodevelopmental and Endocrine phenotypes

Paganini-Miozzo syndrome (MRXSPM) is a globally rare disease caused by hemizygous mutations in the HS6ST2 gene on chromosome Xq26. This study presents the first case of MRXSPM in China, meanwhile the fourth case worldwide. The proband was admitted to the hospital due to developmental delay. Whole ex...

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Bibliographic Details
Main Authors: Meiling Zhang, Xiao Chang, Xiaoyun Du, Zhen Chen, Xinyue Zhang, Fucheng Cai
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Genetics
Subjects:
Paganini-Miozzo syndrome (MRXSPM)
HS6ST2
whole exome sequencing (WES)
developmental delay
endocrine abnormality
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1515260/full
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