Fourth patient with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria caused by a recurrent IDH1 mosaic mutation

Bianca Greiten, Anna-Sophie Liegmann, Franka Rust,Inga Nagel, Stephanie Colling,Yorck Hellenbroich,Malte Spielmann,Irina Huening

EUROPEAN JOURNAL OF HUMAN GENETICS(2023)

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