Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype-Reference-Cited by-同舟云学术

Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype

Published:2022-03 Issue: Volume:37 Page:1-7
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Ignatius Erika^ORCID,Puosi Riina,Palomäki Maarit,Forsbom Noora,Pohjanpelto Max^ORCID,Alitalo Tiina,Anttonen Anna-Kaisa^ORCID,Avela Kristiina,Haataja Leena,Carroll Christopher J.,Lönnqvist Tuula,Isohanni Pirjo^ORCID

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference26 articles.

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

2. Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism;Harms;Am. J. Hum. Genet.,2017

3. De novo mutations in EBF3 cause a neurodevelopmental syndrome;Sleven;Am. J. Hum. Genet.,2017

4. The COE – collier/Olf1/EBF – transcription factors: structural conservation and diversity of developmental functions;Dubois;Mech. Dev.,2001

5. Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism;Padhi;Hum. Genom.,2021

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1. Early B Cell Factor 3 (EBF3) attenuates Parkinson's disease through directly regulating contactin-associated protein-like 4 (CNTNAP4) transcription: An experimental study;Cellular Signalling;2024-06

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3. Identification of neutrophil‐related genes and development of a prognostic model for cholangiocarcinoma;The Journal of Gene Medicine;2023-08-02

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

5. Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients;Frontiers in Pediatrics;2023-03-03