Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease

S.C.C. Vincenten*, N. Van der Stoep, A.D.C. Paulussen, K. Mul, U.A. Badrising, M. Kriek, O.W.H. Van der Heijden, B.G.M. Van Engelen, N.C. Voermans, C.E.M. De Die-Smulders, S. Lassche

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

Original languageEnglish
Pages (from-to)149-160
Number of pages12
JournalClinical Genetics
Volume101
Issue number2
Early online date1 Aug 2021
DOIs
Publication statusE-pub ahead of print - 1 Aug 2021

Keywords

  • delivery
  • facioscapulohumeral muscular dystrophy
  • genetics
  • pregnancy
  • preimplantation genetic testing
  • prenatal diagnosis
  • NEUROMUSCULAR DISORDERS
  • SOMATIC MOSAICISM
  • D4Z4 REPEAT
  • FSHD
  • DIAGNOSIS
  • WOMEN
  • REARRANGEMENTS
  • PHENOTYPE
  • SMCHD1
  • REGION

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