Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

Pathogenic variants in EBF3 were recently described in three back-to-back publications in association with a novel neurodevelopmental disorder characterized by intellectual disability, speech delay, ataxia, and facial dysmorphisms. In this report, we describe an additional patient carrying a de novo...

Descripción completa

Detalles Bibliográficos
Autores principales: Blackburn, Patrick R., Barnett, Sarah S., Zimmermann, Michael T., Cousin, Margot A., Kaiwar, Charu, Pinto e Vairo, Filippo, Niu, Zhiyv, Ferber, Matthew J., Urrutia, Raul A., Selcen, Duygu, Klee, Eric W., Pichurin, Pavel N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411688/
https://www.ncbi.nlm.nih.gov/pubmed/28487885
http://dx.doi.org/10.1101/mcs.a001743

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411688/
https://www.ncbi.nlm.nih.gov/pubmed/28487885
http://dx.doi.org/10.1101/mcs.a001743

Ejemplares similares