SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain
Richard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, Steven A Moore, David San Leon Granado, Katherine Johnson, Ana Topf, Volker Straub, Teresinha Evangelista, Tahseen Mozaffar, Virginia Kimonis, Natalie D Shaw, Rita Selvatici, Alessandra Ferlini, Nicol Voermans, Baziel van Engelen, Sabrina Sacconi, Rabi Tawil, Meindert Lamers, Silvère M van der Maarel
Journal of Medical Genetics Oct 2019, 56 (10) 693-700; DOI: 10.1136/jmedgenet-2019-106168