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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Udgivet i:PLoS One
Main Authors: Kritioti, Evie, Theodosiou, Athina, Parpaite, Thibaud, Alexandrou, Angelos, Nicolaou, Nayia, Papaevripidou, Ioannis, Séjourné, Nina, Coste, Bertrand, Christophidou-Anastasiadou, Violetta, Tanteles, George A., Sismani, Carolina
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2021
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8320927/
https://ncbi.nlm.nih.gov/pubmed/34324503
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0253562
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