Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach

BACKGROUND AND AIMS: This is the first national population‐based report about prenatal diagnosis for families with a history of facioscapulohumeral muscular dystrophy (FSHD), a complex hereditary disease. The incomplete disease penetrance and the phenotypic heterogeneity observed in carriers of D4Z4...

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Detalles Bibliográficos
Autores principales: Di Feo, Maria Francesca, Bettio, Cinzia, Salsi, Valentina, Bertucci, Emma, Tupler, Rossella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9059202/
https://www.ncbi.nlm.nih.gov/pubmed/35509380
http://dx.doi.org/10.1002/hsr2.614

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9059202/
https://www.ncbi.nlm.nih.gov/pubmed/35509380
http://dx.doi.org/10.1002/hsr2.614

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