Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome

Witteveen-Kolk syndrome (WITKOS; OMIM #613406) is a recently described, rare neurodevelopmental syndrome characterized by mild intellectual disability and a recognizable facial gestalt. WITKOS is caused by heterozygous loss-of-function variants in SIN3A. It shares some features with 15q24 deletion s...

Descripción completa

Detalles Bibliográficos
Autores principales: Penon-Portmann, Monica, Carlston, Colleen M., Martin, Pierre-Marie, Slavotinek, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2022
Materias:
Novel Insights from Clinical Practice
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421682/
https://www.ncbi.nlm.nih.gov/pubmed/36158056
http://dx.doi.org/10.1159/000520042

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421682/
https://www.ncbi.nlm.nih.gov/pubmed/36158056
http://dx.doi.org/10.1159/000520042

Ejemplares similares