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Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy

BACKGROUND AND OBJECTIVES: After clinical evaluation, the molecular diagnosis of type 1 facioscapulohumeral dystrophy (FSHD1) relies in most laboratories on the detection of a shortened D4Z4 array at the 4q35 locus by Southern blotting. In many instances, this molecular diagnosis remains inconclusiv...

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Detalles Bibliográficos
Autores principales:	Delourme, Megane, Charlene, Chaix, Gerard, Laurene, Ganne, Benjamin, Perrin, Pierre, Vovan, Catherine, Bertaux, Karine, Nguyen, Karine, Bernard, Rafaëlle, Magdinier, Frederique
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10188231/ https://www.ncbi.nlm.nih.gov/pubmed/37200893 http://dx.doi.org/10.1212/NXG.0000000000200076

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