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

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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Bibliographic Details
Main Authors: Fátima Lopes, Gabriela Soares, Miguel Gonçalves-Rocha, Jorge Pinto-Basto, Patrícia Maciel
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-10-01
Series:Frontiers in Genetics
Subjects:
EBF3
intellectual disability
syndrome
10qter deletion
hypotonia
movement disorder
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2017.00143/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2017.00143/full

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