Research Publications

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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)

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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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If you know of any additional research publications that are not found on this list, please send them our way!

info@hadds.org