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Article

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2013

Goubau Christophe, Jaeken Jaak, Levtchenko Elena N, Thys Chantal, Di Michele Michela, Martens Geert A, Gerlo Erik, De Vos Rita, Buyse Gunnar M, Goemans Nathalie, Van Geet Chris, Freson Kathleen

Abstract excerpt

PURPOSE: Aquaporin 7 (AQP7) belongs to the aquaglyceroporin family, which transports glycerol and water. AQP7-deficient mice develop obesity, insulin resistance, and hyperglyceroluria. However, AQP7's pathophysiologic role in humans is not yet known. METHODS: Three children with psychomotor retar...

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Source

Identifiers

PMID: 22899094
DOI: 10.1038/gim.2012.90

Genes

AQP7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22899094-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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