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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.

Suzanne C E H SalleveltAlexander P A StegmannBart de KoningCrool VelterAnja SteylsMelanie van EschPhillis LakemanHelger YntemaMasoud Zamani EstekiChristine E M de Die-SmuldersChristian GilissenArthur van den WijngaardHan G BrunnerAimée D C Paulussen
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
ES-based PCT provides a powerful diagnostic tool to identify AR disease carrier status in consanguineous couples. Outcomes provided significant reproductive choices for a higher proportion of these couples than previous tests.
Keyphrases
  • intimate partner violence
  • clinical practice
  • skeletal muscle
  • adipose tissue