Research Publications

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An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain

Annals of Neurology - 26 March 2022

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Researchers reveal genetic basis of severe forms of EBF3-associated neurodevelopmental disorders

Baylor College of Medicine - April 26, 2022

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De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

Cold Spring Harbor Molecular Case Studies - 11/1/2017

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10q25 and 10q26 deletions

Rare Chromosome Disorder Support Group - 2017

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EBF3 early B-cell factor 3

National Center for Biotechnology Information (NCBI) - 5/8/2017

https://www.ncbi.nlm.nih.gov/gene/253738

# 617330 HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

OMIM® - Online Mendelian Inheritance in Man Database - 2/1/2017

https://www.omim.org/clinicalSynopsis/617330 (Cataloged) 

https://omim.org/entry/617330?search=prefix%3A%23&highlight=None

(Detailed HADDS Description for Database)

To participate in an active EBF3-HADDS related clinical research study review the flyer and register as a participant. The more participants, the more we will know about HADDS. Dr. Chao's team relies on our HADDS community to participate in order to advance the research.

Questions regarding the study?
Email Dr. Chao's team at
Chao-Lab@bcm.edu

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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
American Journal of Human Genetics (AJGD) - 1/5/2017
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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
American Journal of Human Genetics (AJGD) - 1/5/2017
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
American Journal of Human Genetics (AJGD) - 1/5/2017
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