Associated Papers
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Padhi EM et al.
Human Genomics, 2021
34256850 (PubMed )
Supplement: 40246_2021_342_MOESM6_ESM.xlsx › Sheet1
Genetic background of ataxia in children younger than 5 years in Finland.
Ignatius E et al.
Neurology. Genetics, 2020
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
Tanaka AJ et al.
Cold Spring Harbor Molecular Case Studies, 2017
29162653 (PubMed )
Supplement: supp_mcs.a002097_Supplemental_Table_S1.xlsx › Supplemental_Table_S1
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Harms FL et al.
American Journal of Human Genetics, 2017
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