Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease-Reference-Cited by-同舟云学术

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

Published:2017-10-09 Issue: Volume:8 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Lopes Fátima,Soares Gabriela,Gonçalves-Rocha Miguel,Pinto-Basto Jorge,Maciel Patrícia

Funder

Fundação para a Ciência e a Tecnologia

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference25 articles.

1. Molecular genetics of intellectual disability;Bessa,2012

2. A syndromic neurodevelopmental disorder caused by de novo variants in EBF3;Chao;Am. J. Hum. Genet.,2017

3. A copy number variation morbidity map of developmental delay;Cooper;Nat. Genet,2011

4. A further case of monosomy 10qter;Evans-Jones;Clin. Genet.,1983

5. Identification of Arx targets unveils new candidates for controlling cortical interneuron migration and differentiation;Friocourt;Front. Cell. Neurosci,2011

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1. Augmentation Cystoplasty in a Girl With Early B-cell Factor 3 (EBF3)-Related Syndrome;Cureus;2024-07-06

2. Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes;Nature Communications;2023-08-02

3. Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome;Neurology Genetics;2023-04

4. Rapid assessment of the temporal function and phenotypic reversibility of neurodevelopmental disorder risk genes in Caenorhabditis elegans;Disease Models & Mechanisms;2022-05-01

5. An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain;Annals of Neurology;2022-04-16

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