A Novel de Novo Mutation Within EFNB1 Gene in a Young Girl With Craniofrontonasal Syndrome
- Author
- APOSTOLOPOULOU, Despina1 2 ; STRATOUDAKIS, Alexander3 ; HATZAKI, Angeliki4 ; KAXIRA, Olga S5 ; PANAGOPOULOS, Kanaris P6 ; KOLLIA, Panagoula7 ; ALEPOROU, Vassiliki7
[1] Department of Genetics and Biotechnology, Faculty of Biology, School of Physical Sciences, National and Kapodistrian University of Athens, Athens, Greece
[2] Department of Genetics and Molecular Biology, and Member, Hellenic Craniofacial Center, MITERA General, Maternity and Children Hospital, Athens, Greece
[3] Plastic and Craniofacial Surgeon and Head, Hellenic Craniofacial Center, MITERA General, Maternity and Children Hospital, Athens, Greece
[4] Molecular Biology Lab Senior, Department of Genetics and Molecular Biology, and Member, Hellenic Craniofacial Center, MITERA General, Maternity and Children Hospital, Athens, Greece
[5] Plastic Surgeon and Member, Hellenic Craniofacial Center, MITERA General. Maternity and Children Hospital, Athens, Greece
[6] Neurosurgeon, YGEIA General Hospital, Athens, Greece
[7] Department of Genetics and Biotechnology, Faculty of Biology, School of Physical Sciences, National and Kapodistrian University of Athens, Athens, Greece - Source
The Cleft palate-craniofacial journal. 2012, Vol 49, Num 1, pp 109-113, 5 p ; ref : 1/4 p
- ISSN
- 1055-6656
- Scientific domain
- Otorhinolaryngology, stomatology, dentistry
- Publisher
- American Cleft Palate-Craniofacial Association, Chapel Hill, NC
- Publication country
- Canada
- Document type
- Article
- Language
- English
- Author keyword
- CFNS coronal craniosynostosis craniofacial reconstruction, EFN81 gene ephrins missense mutation telorbitism
- Keyword (fr)
- Crâniofacial Crâniosynostose Enfant Gène Mutation Reconstruction anatomique Stomatologie Traitement Crâniofrontonasal syndrome Chirurgie Dysostose Homme Malformation Pathologie du crâne Pathologie du système nerveux Pathologie du système ostéoarticulaire Syndrome complexe
- Keyword (en)
- Craniofacial Craniosynostosis Child Gene Mutation Anatomical reconstruction Stomatology Treatment Crâniofrontonasal syndrome Surgery Dysostosis Human Malformation Skull disease Nervous system diseases Diseases of the osteoarticular system Complex syndrome
- Keyword (es)
- Craneofacial Craneosinóstosis Niño Gen Mutación Reconstrucción anatómica Estomatología Tratamiento Cirugía Disostosis Hombre Malformación Cráneo patología Sistema nervioso patología Sistema osteoarticular patología Síndrome complejo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Discipline
- Osteoarticular pathology Otorhinolaryngology. Stomatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 25472089
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1597/10-247 
https://dx.doi.org/10.1597/10-247
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