EBF3

Publications

Chao HT et al. A syndromic neurodevelopmental disorder caused by de novo variants in EBF3. Am J Hum Genet. 2017;100(1):128-137.  PMID: 28017372.

Harms FL et al. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet. 2017;100(1):117-127.  PMID: 28017373.

Sleven H et al. De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. Am J Hum Genet. 2017;100(1):138-150.  PMID: 28017370.

Blackburn PR et al. 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. Cold Spring Harb Mol Case Stud. 2017;3(3):a001743.  PMID: 28487885.

Lopes F et al. Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease. Front Genet. 2017;8:143.  PMID: 29062322.

Tanaka AJ et al. De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. Cold Spring Harb Mol Case Stud. 2017;3(6)pii: a002097.  PMID: 29162653.