The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature
- Author
- RAAS-ROTHSCHILD, Annick1 ; DIJKHUIZEN, Trijnie2 ; SIKKEMA-RADDATZ, Birgit2 ; WERNER, Marion1 ; DAGAN, Judith1 ; ABELIOVICH, Devorah1 ; LERER, Israela1
[1] Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
[2] Department of Clinical Genetics, University Medical Center Groningen (UMCG), P.O. Box 30.001, 9700 RB Groningen, Netherlands - Issue title
- Emerging Microdeletion and Microduplication Syndromes
- Author (monograph)
- VAN RAVENSWAAIJ-ARTS, Conny M. A (Editor)1 ; KLEEFSTRA, Tjitske (Editor)2
[1] Department of Genetics, University Medical Centre Groningen, University of Groningen, P.O. Box 30001, 9700 RB Groningen, Netherlands
[2] Department of Human Genetics, Radboud University Nijmegen, Medical Centre, Nijmegen, Netherlands - Source
European journal of medical genetics. 2009, Vol 52, Num 2-3, pp 140-144, 5 p ; ref : 14 ref
- Publisher
- Elsevier, Amsterdam
- Publication country
- Netherlands
- Document type
- Article
- Language
- English
- Author keyword
- Blepharophimosis Chromosome 8q22.1 Contractures Happy disposition Microdeletion Nablus mask-like facial syndrome Telecanthus
- Keyword (fr)
- Blépharophimosis Chromosome Contracture Etude cas Face Génétique Homme Malformation Masque Revue bibliographique Syndrome Télécanthus Microdélétion Maladie congénitale Pathologie de l'oeil Pathologie de la paupière
- Keyword (en)
- Blepharophimosis Chromosome Contracture Case study Face Genetics Human Malformation Mask Bibliographic review Syndrome Telecanthus Microdeletion Congenital disease Eye disease Eyelid disease
- Keyword (es)
- Blefarofimosis Cromosoma Contractura Estudio caso Cara Genética Hombre Malformación Máscara Revista bibliográfica Síndrome Telecanto Microdeletion Enfermedad congénita Ojo patología Párpado patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09A Malformations of the eye
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09D Diseases of eyelid, conjunctiva and lacrimal tracts
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Ophthalmology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 21749889
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
10.1016/j.ejmg.2009.03.011 
https://dx.doi.org/10.1016/j.ejmg.2009.03.011
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