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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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Bibliographic Details
Main Authors:	Yijun Pan (Author), Bin Ren (Author), Lijuan Chen (Author), Qiang Li (Author)
Format:	Book
Published:	Frontiers Media S.A., 2024-12-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
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