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Article

Perinatal hypophosphatasia caused by uniparental isodisomy.

Bone - 1 Mar 2014

Watanabe Atsushi, Satoh Shuhei, Fujita Atsushi, Naing Banyar Than, Orimo Hideo, Shimada Takashi

Abstract excerpt

Hypophosphatasia (HPP) is an inherited disorder characterized by defective bone mineralization caused by mutations in the alkaline phosphatase gene (ALPL). Clinically, the disease spans a great continuum of disease severity and six forms can be distinguished according to the age of onset. The most severe is the autosomal recessive perinatal form, a major prenatal skeletal dysplasia in Japan. The ALPL mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24334170
DOI: 10.1016/j.bone.2013.12.009

Genes

ALPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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