Associated Papers
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
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Sleven H et al.
American Journal of Human Genetics, 2017
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