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
Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.
Harkness JR et al.
Kidney International Reports, 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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