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Article

An intermediate phenotype in IDH related enchondromatosis spectrum.

European journal of medical genetics - 1 Mar 2023

Yilmaz-Gulec Elif, Marzin Pauline, Huber-Lequesne Céline, Cormier-Daire Valérie

Abstract excerpt

Mosaic variants of IDH1 (isocitrate dehydrogenase-1) R132 and IDH2 (isocitrate dehydrogenase-2) R172 loci were detected in most of the bone cysts of Ollier and Maffucci series and in the blood and tissue samples of metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA) patients. We aimed to report an intermediate phenotype comparing with the reported cases. The proband was a 9-year-old boy with...

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Identifiers

PMID: 36649847
DOI: 10.1016/j.ejmg.2023.104697

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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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An intermediate phenotype in IDH related enchondromatosis spectrum.PMID 36649847Read ↗

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