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Mutations in PIGL in a patient with Mabry syndrome

23 Feb 2015

Abstract excerpt

Mabry syndrome, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and seizures. Recent studies have revealed mutations in PIGV, PIGW, PIGO, PGAP2, and PGAP3 (genes that encode molecules of the glycosylphosphatidylinositol (GPI)-anchor biosynthesis...

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PMID: 25706356
DOI: 10.1002/ajmg.a.36987

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Mutations in PIGL in a patient with Mabry syndromePMID 25706356Read ↗

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