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Article

A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency

30 Sept 2015

Abstract excerpt

Glycosylphosphatidylinositol (GPI) anchors tether proteins to the extracellular face of eukaryotic plasma membranes. Defects in the human GPI anchor biosynthetic pathway cause inherited GPI deficiencies (IGDs) characterized by multiple congenital anomalies: dysmorphic faces, developmental delay, hypotonia, and epilepsy. We report the case of a 6-year-old boy with severe psychomotor developmental delay, epilepsy,...

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PMID: 26419326
DOI: 10.1002/ajmg.a.37397

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A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiencyPMID 26419326Read ↗

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