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Article

Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.

European journal of human genetics : EJHG - 1 Oct 2014

Hofmann Christine, Girschick Hermann, Mornet Etienne, Schneider Doris, Jakob Franz, Mentrup Birgit

Abstract excerpt

Hypophosphatasia (HPP) is a clinically heterogeneous rare, inherited disorder of bone and mineral metabolism with extensive allelic heterogeneity in the ALPL gene. In this report, we present a family with heterozygous parents (maternal p.(Glu191Lys), paternal p.(Gly334Asp) mutations in the ALPL gene) and four children (one genotypically normal, one heterozygous carrier and two compound heterozygous) showing an...

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Identifiers

PMID: 24569605
DOI: 10.1038/ejhg.2014.10
PMCID: PMC4169536

Genes

ALPL

Provenance

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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