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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Bibliografske podrobnosti
izdano v:Neurology
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2018
Teme:
Article
Online dostop: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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