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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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1515260/full |
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