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

Authors :: Rattanapornsompong K
Chetruengchai W
Srichomthong C
Theerapanon T
Porntaveetus T
Shotelersuk V
Source :: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63557. Date of Electronic Publication: 2024 Feb 02.
Publication Year :: 2024

Subjects :: Humans
Metabolism, Inborn Errors genetics
Metabolism, Inborn Errors diagnosis
Mutation genetics
Enchondromatosis genetics
Enchondromatosis diagnosis
Enchondromatosis pathology
Brain Diseases, Metabolic, Inborn

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