Associated Papers
Unveiling the prenatal features of HADDS: A case report and literature review.
Hu L et al.
Heliyon, 2025
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.
Yankee TN et al.
Nature Communications, 2023
37532691 (PubMed )
Supplement: 41467_2023_40363_MOESM2_ESM.pdf
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Deisseroth CA et al.
Annals of Neurology, 2022
Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.
Harkness JR et al.
Kidney International Reports, 2020
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.
Blackburn PR et al.
Cold Spring Harbor Molecular Case Studies, 2017
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