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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| Auteurs principaux: | , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
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Public Library of Science (PLoS)
2021
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| Accès en ligne: | https://doaj.org/article/c361d68fa02b47d5abaf3fa68d1c32fc |
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