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Article

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Annals of human genetics - 1 May 2009

Heinritz Wolfram, Hüffmeier Ulrike, Strenge Sibylle, Miterski Bianca, Zweier Christiane, Leinung Steffen, Bohring Axel, Mitulla Beate, Peters Usha, Froster Ursula G

Abstract excerpt

Mutations in either the EXT1 or EXT2 genes lead to Multiple Osteochondromas (MO), an autosomal dominantly inherited disorder. This is a report on clinical findings and results of molecular analyses of both genes in 23 German patients affected by MO. Mutation screening was performed by using denat...

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Source

Identifiers

PMID: 19344451
DOI: 10.1111/j.1469-1809.2009.00508.x

Genes

EXT2
EXT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19344451-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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