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Article

Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review.

Diagnostic pathology - 4 Nov 2019

Abi Farraj Layal, Khatoun Wassim Daoud, Abou Chebel Naji, Wakim Victor, Dawali Katia, Ghassibe-Sabbagh Michella

Abstract excerpt

BACKGROUND: Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, intellectual disability, cardiac abnormalities, and developmental delay. Genes involved in the glycosylphosphatidylinositol pathway and known to be mutated in HPMRS have never been characterized in the...

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Identifiers

PMID: 31684969
DOI: 10.1186/s13000-019-0902-5
PMCID: PMC6829978

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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