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Article

Venous malformation may be a feature of EXT1-related hereditary multiple exostoses: A report of two unrelated probands.

American journal of medical genetics. Part A - 1 Jun 2023

Albokhari Daniah, Bailey Christopher R, Hwang Francis, Weiss Clifford R, Forsberg Jonathan, Sobreira Nara

Abstract excerpt

Hereditary multiple exostoses (HME), also known as hereditary multiple osteochondroma (HMO), is an autosomal dominant disorder caused by pathogenic variants in exostosin-1 or -2 (EXT1 or EXT2). It is characterized by the formation of multiple benign growing osteochondromas (exostoses) that most commonly affect the long bones; however, it may also occur throughout the body. Although many of these lesions are...

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Identifiers

PMID: 36869625
DOI: 10.1002/ajmg.a.63158

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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