De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the deletion of an integral number of 3.3 kb units of the polymorphic D4Z4 repeat array at 4q35. The prenatal identification of this defect can be carried out on chorionic villi or amniocytes, whereas preimplantation genetic test...

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Detalles Bibliográficos
Autores principales: Pini, Sara, Napoli, Floriana Maria, Tagliafico, Enrico, La Marca, Antonio, Bertucci, Emma, Salsi, Valentina, Tupler, Rossella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092082/
https://www.ncbi.nlm.nih.gov/pubmed/36250762
http://dx.doi.org/10.1111/cge.14250

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