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Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria: A 22-year quest.

American journal of medical genetics. Part A - 1 Jun 2024

Rattanapornsompong Khanti, Chetruengchai Wanna, Srichomthong Chalurmpon, Theerapanon Thanakorn, Porntaveetus Thantrira, Shotelersuk Vorasuk

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PMID: 38305044
DOI: 10.1002/ajmg.a.63557

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