Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation
por: Syrimis, Andreas, et al.
Publicado: (2018) -
Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing
por: Aristidou, Constantia, et al.
Publicado: (2022) -
De novo mosaic MECP2 mutation in a female with Rett syndrome
por: Alexandrou, Angelos, et al.
Publicado: (2019) -
Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata
por: Georgiou, Theodoros, et al.
Publicado: (2016) -
Two unrelated individuals carrying rare mosaic deletions in TCF4 gene
por: Kousoulidou, Ludmila, et al.
Publicado: (2018)