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Article

Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients.

American journal of medical genetics. Part A - 1 Oct 2020

Bezuidenhout Heidre, Bayley Samantha, Smit Liani, Kinnear Craig, Möller Marlo, Uren Caitlin, Urban Michael F

Abstract excerpt

Hyperphosphatasia with mental retardation syndrome (HPMRS) is a rare autosomal recessive disorder caused by pathogenic variants in genes involved in glycosylphosphatidylinositol metabolism that result in a similar phenotype. We describe the first three patients with HPMRS from sub-Saharan Africa. Detection was assisted by Face2Gene phenotype matching and confirmed by the presence of elevated serum alkaline...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32845056
DOI: 10.1002/ajmg.a.61797

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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