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

Maria Francesca Di FeoCinzia BettioValentina SalsiEmma BertucciRossella Tupler
Published in: Health science reports (2022)
The different choices made by the couples show the importance of an integrated approach to support genetic counseling for FSHD. These results remark the relevance of the clinical and molecular investigation of the extended family, preferably before conception.
Keyphrases
  • muscular dystrophy
  • smoking cessation
  • duchenne muscular dystrophy
  • hiv testing
  • genome wide
  • men who have sex with men
  • quality improvement
  • copy number
  • single molecule
  • gene expression
  • dna methylation
  • hiv infected