Identification of novel mutations in WFS1 and genotype-phenotype correlation in wolfram syndrome
- Author
- CANO, A1 2 3 ; ROUZIER, C2 ; PAQUIS-FLUCKLINGER, V2 9 ; VIALETTES, B1 ; MONNOT, S2 ; CHABROL, B3 ; CONRATH, J4 ; LECOMTE, P5 ; DELOBEL, B6 ; BOILEAU, P7 ; VALERO, R1 ; PROCACCIO, V8
French Group of Wolfram Syndrome, France
[1] Department of Nutrition, Metabolic Diseases and Endocrinology, la Timone, Hospital, Marseille, France
[2] Department of Medical Genetics , Archet 2 Hospital, Nice, France
[3] Department of Pediatrics, la Timone Hospital, Marseille, France
[4] ''Department of Ophtalmology, la Timone Hospital, Marseille, France
[5] Department of Endocrinology, Bretonneau Hospital, Tours, France
[6] Laboratory of Cytogenetics, Saint Antoine Hospital, Paris, France
[7] Department of Endocrinology and Pediatrics, Saint Vincent de Paul Hospital, Paris, France
[8] Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, California, United States
[9] UMR CNRS 6543, Medicine School, University of Nice Sophia Antipolis, Nice, France
[10] ALFEDIAM, Paris, France - Issue title
- Special issue: The genetic basis of deafness
- Author (monograph)
- CAREY, John C (Author of introductory parts)1
[1] Department of Pediatrics, University of Utah, Salt Lake City, UT, United States - Source
American journal of medical genetics. Part A. 2007, Vol 143, Num 14, pp 1605-1612, 8 p ; ref : 3/4 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- DIDMOAD WFS1 Wolfram syndrome genotype-phenotype correlation
- Keyword (fr)
- Corrélation Génotype Identification Mutation Phénotype Typage Wolfram syndrome Maladie héréditaire Syndrome complexe
- Keyword (en)
- Correlation Genotype Identification Mutation Phenotype Typing Wolfram syndrome Genetic disease Complex syndrome
- Keyword (es)
- Correlación Genotipo Identificación Mutación Fenotipo Tipificación Wolfram síndrome Enfermedad hereditaria Síndrome complejo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18953189
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
10.1002/ajmg.a.31809 
https://dx.doi.org/10.1002/ajmg.a.31809
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