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...

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Détails bibliographiques
Publié dans:J Med Genet
Auteurs principaux: 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
Langue:Inglês
Publié: 2019
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Article
Accès en ligne: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
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