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

Autor:	Fátima Lopes, Gabriela Soares, Miguel Gonçalves-Rocha, Jorge Pinto-Basto, Patrícia Maciel
Jazyk:	angličtina
Rok vydání:	2017
Předmět:	EBF3 intellectual disability syndrome 10qter deletion hypotonia movement disorder Genetics QH426-470
Zdroj:	Frontiers in Genetics, Vol 8 (2017)
Druh dokumentu:	article
ISSN:	1664-8021
DOI:	10.3389/fgene.2017.00143
Popis:	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 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the literature. However, small deletions (
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/98fa8fc6fb37440c93d103907890946f Zobrazit plný text záznamu View record in DOAJ