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Article

PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

Clinical genetics - 1 Jan 2018

Abdel-Hamid M S, Issa M Y, Otaify G A, Abdel-Ghafar S F, Elbendary H M, Zaki M S

Abstract excerpt

BACKGROUND: Hyperphosphatasia with mental retardation syndrome (HPMRS) is caused by recessive mutations in genes involved in the glycosylphosphatidylinsitol pathway, including PGAP3. MATERIALS AND METHODS: We describe 10 patients from 8 Egyptian families presenting with developmental delay, severe intellectual disability, distinct facial dysmorphism and increased alkaline phosphatase. Sanger sequencing of PGAP3...

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Source

Identifiers

PMID: 28390064
DOI: 10.1111/cge.13033

Genes

PGAP3

Variants

Provenance

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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