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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Main Authors: | Evie Kritioti, Athina Theodosiou, Thibaud Parpaite, Angelos Alexandrou, Nayia Nicolaou, Ioannis Papaevripidou, Nina Séjourné, Bertrand Coste, Violetta Christophidou-Anastasiadou, George A Tanteles, Carolina Sismani |
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Format: | article |
Language: | EN |
Published: |
Public Library of Science (PLoS)
2021
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Online Access: | https://doaj.org/article/c361d68fa02b47d5abaf3fa68d1c32fc |
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