Genetic Counseling and NGS Screening for Recessive LGMD2A Families

Genetic counseling applied to limb–girdle muscular dystrophies (LGMDs) can be very challenging due to their clinical and genetic heterogeneity and the availability of different molecular assays. Genetic counseling should therefore be addressed to select the most suitable approach to increase the dia...

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Detalles Bibliográficos
Autores principales: Strafella, Claudia, Caputo, Valerio, Campoli, Giulia, Galota, Rosaria Maria, Mela, Julia, Zampatti, Stefania, Minozzi, Giulietta, Sancricca, Cristina, Servidei, Serenella, Giardina, Emiliano, Cascella, Raffaella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349198/
https://www.ncbi.nlm.nih.gov/pubmed/32397577
http://dx.doi.org/10.3390/ht9020013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349198/
https://www.ncbi.nlm.nih.gov/pubmed/32397577
http://dx.doi.org/10.3390/ht9020013

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