A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review
Recently, mutations have been identified in six genes (PIGA, PIGY, PIGO, PGAP2, PIGW and PGAP3) encoding proteins in the Glycosyl phosphatidylinositol(GPI)-anchor-synthesis pathway in individuals with hyperphosphatasia with impaired intellectual development syndrome(HPMRS). Reports involving the rar...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2024-12-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1419976/full |
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