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

BACKGROUND: Variants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 (SMCHD1) can cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) and the unrelated Bosma arhinia microphthalmia syndrome (BAMS). In FSHD2, pathogenic variants are found anywhere in SM...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:J Med Genet
Autors principals: Lemmers, Richard J L F, van der Stoep, Nienke, van der Vliet, Patrick J, Moore, Steven A, Granado, David San Leon, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Mozaffar, Tahseen, Kimonis, Virginia, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, van der Maarel, Silvère M
Format: Artigo
Idioma:Inglês
Publicat: 2019
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6800092/
https://ncbi.nlm.nih.gov/pubmed/31243061
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106168
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars