| 1 | CLDN11, HLD22 |
| 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 J, Murcia Pienkowski V, Pollak A, Szymanska K, Tarailo-Graovac M, van der Lee R, van Karnebeek CD, Meitinger T, Krägeloh-Mann I, Vill K. | |
| Brain. Mar 3;144(2):411-419. doi: 10.1093/brain/awaa410. Erratum in: Brain. 2021 Jun 22;144(5):e48. 2021 | |