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...

Descripción completa

Detalles Bibliográficos
Autores principales: Kritioti, Evie, Theodosiou, Athina, Parpaite, Thibaud, Alexandrou, Angelos, Nicolaou, Nayia, Papaevripidou, Ioannis, Séjourné, Nina, Coste, Bertrand, Christophidou-Anastasiadou, Violetta, Tanteles, George A., Sismani, Carolina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8320927/
https://www.ncbi.nlm.nih.gov/pubmed/34324503
http://dx.doi.org/10.1371/journal.pone.0253562

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8320927/
https://www.ncbi.nlm.nih.gov/pubmed/34324503
http://dx.doi.org/10.1371/journal.pone.0253562

Ejemplares similares