Vogt G, El Choubassi N, Herczegfalvi Á, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, Kornak U, Fischer‐Zirnsak B. Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. J of Inher Metab Disea. 2021 Feb 04;44(4):972–86. doi: 10.1002/jimd.12341.