A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome
Joint Authors
Leyva-Hernandez, C.
Ramirez-Garcia, M. A.
Cardenas-Conejo, A.
Chacon-Camacho, O. F.
Zenteno, J. C.
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-02-21
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Craniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in the EFNB1 gene in which, paradoxically, heterozygous females are more severely affected than hemizygous males.
In this paper, the clinical and molecular studies of a female subject with CFNS are described.
A novel de novo c.473T>C (p.M158T) mutation in exon 3 of EFNB1 was demonstrated in this patient.
The M158 residue of the Ephrin-B1 protein is highly conserved between species.
Our results expand the mutational spectrum exposed by CNFS.
American Psychological Association (APA)
Ramirez-Garcia, M. A.& Chacon-Camacho, O. F.& Leyva-Hernandez, C.& Cardenas-Conejo, A.& Zenteno, J. C.. 2013. A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome. Case Reports in Genetics،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-464861
Modern Language Association (MLA)
Ramirez-Garcia, M. A.…[et al.]. A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome. Case Reports in Genetics No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-464861
American Medical Association (AMA)
Ramirez-Garcia, M. A.& Chacon-Camacho, O. F.& Leyva-Hernandez, C.& Cardenas-Conejo, A.& Zenteno, J. C.. A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome. Case Reports in Genetics. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-464861
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-464861
