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PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.

Neuropediatrics - 1 Apr 2024

Saracino Annalisa, Totaro Martina, Politano Davide, DE Giorgis Valentina, Gana Simone, Papalia Grazia, Pichiecchio Anna, Plumari Massimo, Rognone Elisa, Varesio Costanza, Orcesi Simona

Abstract excerpt

PGAP2 gene has been known to be the cause of "hyperphosphatasia, mental retardation syndrome-3" (HPMRS3). To date, 14 pathogenic variants in PGAP2 have been identified as the cause of this syndrome in 24 patients described in single-case reports or small clinical series with pan-ethnic distribution. We aim to present a pediatric PGAP2-mutated case, intending to further expand the clinical phenotype of the...

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PMID: 38365198
DOI: 10.1055/s-0044-1779613

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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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