Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease

Mutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large...

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Detalles Bibliográficos
Autores principales: Lopes, Fátima, Soares, Gabriela, Gonçalves-Rocha, Miguel, Pinto-Basto, Jorge, Maciel, Patrícia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640723/
https://www.ncbi.nlm.nih.gov/pubmed/29062322
http://dx.doi.org/10.3389/fgene.2017.00143

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640723/
https://www.ncbi.nlm.nih.gov/pubmed/29062322
http://dx.doi.org/10.3389/fgene.2017.00143

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