Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.

Multiple malformation syndromes (MMS) belong to a group of genetic disorders characterised by neurodevelopmental anomalies and congenital malformations. Here we explore for the first time the genetic aetiology of MMS using whole-exome sequencing (WES) in undiagnosed patients from the Greek-Cypriot p...

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Autores principales: Evie Kritioti, Athina Theodosiou, Thibaud Parpaite, Angelos Alexandrou, Nayia Nicolaou, Ioannis Papaevripidou, Nina Séjourné, Bertrand Coste, Violetta Christophidou-Anastasiadou, George A Tanteles, Carolina Sismani
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/c361d68fa02b47d5abaf3fa68d1c32fc
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