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Article

Childhood hypophosphatasia with homozygous mutation of ALPL.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Oct 2014

Ukarapong Supamit, Ganapathy Shankar Srinivas, Haidet Jaime, Berkovitz Gary

Abstract excerpt

OBJECTIVE: To describe an unusual phenotype of a case with rare homozygous ALPL gene mutation that results in mild form of hypophosphatasia. METHODS: Case presentation, description of biochemical profiles, genetic testing and a brief review of literature are presented. RESULTS: A 13-year-old male presented with chronic left knee pain. Radiogram of the left knee indicated two oval radiolucent lesions in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25100374
DOI: 10.4158/EP14083.CR

Genes

ALPL

Variants

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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