Title: | 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. |
Journal : | Journal of medical genetics |
Authors: | Lemmers RJLF, Author ; van der Stoep N ; Vliet PJV ; Moore SA ; San Leon Granado D ; Johnson K ; Topf A ; Straub V ; Evangelista T ; Mozaffar T ; Kimonis V ; Selvatici R ; Ferlini A ; Voermans N ; van Engelen B ; Sacconi S ; Tawil R ; Lamers M ; van der Maarel SM |
Material Type: | Article |
Publisher: | England, 06/2019 |
Languages: | English |
Pubmed / DOI : | Pubmed : 31243061 / DOI : 10.1136/jmedgenet-2019-106168 |
N° Profil MNM : | 2019071 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/31243061 |