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A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication

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dc.contributor.authorSEVEN, Mehmet
dc.contributor.authorGezdirici, Alper
dc.contributor.authorUlucan, Hakan
dc.contributor.authorKaratas, Omer Faruk
dc.contributor.authorYosunkaya, Elif
dc.contributor.authorYuksel, Adnan
dc.contributor.authorOzen, Mustafa
dc.date.accessioned2020-10-22T21:40:28Z
dc.date.available2020-10-22T21:40:28Z
dc.date.issued2013-09-01T00:00:00Z
dc.description.abstractCraniofrontonasal syndrome (CFNS, MIM #304110) is a rare X-linked dominant developmental disorder that shows paradoxically greater severity in affected females than in affected males. Our female patient with frontonasal dysplasia, craniosynostosis and additional malformations was consistent with CFNS. EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is the only gene in which mutation is known to cause CFNS. Here, we describe 402 T > C, a novel de novo mutation on EFNB1. This mutation results in substitution of highly conserved isoleucine at 134th residue to threonine. (C) 2013 Elsevier B.V. All rights reserved.
dc.identifier.citationSEVEN M., Gezdirici A., Ulucan H., Karatas O. F. , Yosunkaya E., Yuksel A., Ozen M., -A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication-, GENE, cilt.527, ss.675-678, 2013
dc.identifier.doi10.1016/j.gene.2013.06.038
dc.identifier.scopus84881557221
dc.identifier.urihttp://hdl.handle.net/20.500.12645/24976
dc.identifier.wosWOS:000323872300038
dc.titleA novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication
dc.typeArticle
dspace.entity.typePublication
local.avesis.idfc26b02d-6533-48cb-b290-c04949ce5c4e
local.publication.isinternational1
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