Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

doi:10.1002/ajmg.a.36184

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Article

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

American journal of medical genetics. Part A - 1 Jan 2014

van der Crabben Saskia N, Harakalova Magdalena, Brilstra Eva H, van Berkestijn Frédérique M C, Hofstede Floris C, van Vught Adrianus J, Cuppen Edwin, Kloosterman Wigard, Ploos van Amstel Hans Kristian, van Haaften Gijs, van Haelst Mieke M

Abstract excerpt

Phosphatidyl inositol glycan (PIG) enzyme subclasses are involved in distinct steps of glycosyl phosphatidyl inositol anchor protein biosynthesis. Glycolsyl phosphatidyl inositol-anchored proteins have heterogeneous functions; they can function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways. Germline mutations in genes encoding different members of the PIG...

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Identifiers

PMID: 24259184
DOI: 10.1002/ajmg.a.36184

Genes

PIGA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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