EFNB1

Publications

Acosta-Fernández E et al. Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. Am J Med Genet A. 2020;182(5), 1223–1229. https://doi.org/10.1002/ajmg.a.61506. PMID: 32022998.

Dupré S et al. Implications for the Multi-Disciplinary Management of Children With Craniofrontonasal Syndrome. J Craniofac Surg. 2020;31(4):e362-e368. doi:10.1097/SCS.0000000000006367. PMID: 32371695.

Twigg SR et al. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Hum Mol Genet. 2013;22(8):1654-1662. doi:10.1093/hmg/ddt015. PMID: 23335590.

Twigg SR et al. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A. 2004;101(23):8652-8657. doi:10.1073/pnas.0402819101. PMID: 15166289.

Twigg SR et al. The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet. 2006;78(6):999-1010. doi:10.1086/504440. PMID: 16685650.

van den Elzen ME et al. Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1. Eur J Hum Genet. 2014;22(8), 995–1001. https://doi.org/10.1038/ejhg.2013.273. PMID: 24281372.

Wieacker P et al. Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox. Mol Genet Metab. 2005;86(1-2):110-116. doi: 10.1016/j.ymgme.2005.07.017. PMID: 16143553.