De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.

Riedhammer KM, Stockler S, Ploski R, Wenzel M, Adis-Dutschmann B, Ahting U, Alhaddad B, Blaschek A, Haack TB, Kopajtich R, Lee JY, Murcia Pienkowski V, Pollak A, Szymanska K, van der Lee R, van Karnebeek CD, Meitinger T, Krägeloh-Mann I, Vill K.