FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

OBJECTIVE: To determine whether congenital arhinia/Bosma arhinia microphthalmia syndrome (BAMS) and facioscapulohumeral muscular dystrophy type 2 (FSHD2), 2 seemingly unrelated disorders both caused by heterozygous pathogenic missense variants in the SMCHD1 gene, might represent different ends of a...

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Pubblicato in:Neurology
Autori principali: Mul, Karlien, Lemmers, Richard J.L.F., Kriek, Marjolein, van der Vliet, Patrick J., van den Boogaard, Marlinde L., Badrising, Umesh A., Graham, John M., Lin, Angela E., Brand, Harrison, Moore, Steven A., Johnson, Katherine, Evangelista, Teresinha, Töpf, Ana, Straub, Volker, Kapetanovic García, Solange, Sacconi, Sabrina, Tawil, Rabi, Tapscott, Stephen J., Voermans, Nicol C., van Engelen, Baziel G.M., Horlings, Corinne G.C., Shaw, Natalie D., van der Maarel, Silvère M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Lippincott Williams & Wilkins 2018
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6105048/
https://ncbi.nlm.nih.gov/pubmed/29980640
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000005958
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