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Article

PIGO deficiency: palmoplantar keratoderma and novel mutations.

Orphanet journal of rare diseases - 25 May 2017

Morren Marie-Anne, Jaeken Jaak, Visser Gepke, Salles Isabelle, Van Geet Chris, Simeoni Ilenia, Turro Ernest, Freson Kathleen

Abstract excerpt

BACKGROUND: Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylati...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Keratoderma, Palmoplantar

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Source

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Identifiers

PMID: 28545593
DOI: 10.1186/s13023-017-0654-9
PMCID: PMC5445308

Genes

PIGO
GPI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-28545593-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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