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Article

The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.

Orphanet journal of rare diseases - 28 May 2020

Wu Tenghui, Yin Fei, Guang Shiqi, He Fang, Yang Li, Peng Jing

Abstract excerpt

Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders characterised by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies associated with a wide range of additional features (hypotonia, hearing loss, elevated alkaline phosphatase, and several other features). Glycosylphosphatidylinositol functions as an anchor to link cell...

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Identifiers

PMID: 32466763
DOI: 10.1186/s13023-020-01401-z
PMCID: PMC7254680

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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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