Research Publications
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
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
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# 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)
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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
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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