Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity
- Author
- SENEE, Valérie1 ; VATTEM, Krishna M2 ; MICHAUD, Jacques L10 ; BIN-ABBAS, Bassan11 ; TAHA, Doris12 ; ZABEL, Bernard13 ; FRANCESCHINI, Piergiorgio14 ; TOPALOGLU, A. Kemal15 ; LATHROP, G. Mark3 ; BARRETT, Timothy G16 ; NICOLINO, Marc6 ; WEK, Ronald C2 ; DELEPINE, Marc3 ; JULIER, Cécile1 ; RAINBOW, Lynn A4 ; HATON, Céline5 ; LECOQ, Annick6 ; SHAW, Nick J7 ; ROBERT, Jean-Jacques8 ; ROOMAN, Raoul9 ; DIATLOFF-ZITO, Catherine5
[1] Génétique des Maladies Infectieuses et Autoirrtmunes, INSERM E102, Institut Pasteur, Paris, France
[2] Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, Indiana, United States
[3] Centre National de Génotypage, Evry, France
[4] Medical and Molecular Genetics, The Medical School, University of Birmingham, Birmingham, United Kingdom
[5] INSERM U383, G. Hospitalier Necker-Enfants Malades, Paris, France
[6] Endocrinologie et Diabétologie Infantiles, Hôpital Debrousse, Lyon, France
[7] Department of Endocrinology, Birmingham Children's Hospital, Birmingham, United Kingdom
[8] G Hospitalier Necker-Enfants Malades, Paris, France
[9] Department of Pediatrics, Antwerp University Hospital, Edegem, Belgium
[10] Service de Génétique Médicale, Hôpital Sainte-Justine, Montréal, Canada
[11] Department of Pediatrics, King Faisal Specialist Hospital, Riyadh, Saudi Arabia
[12] Division of Pediatric Endocrinology, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia
[13] Children's Hospital, University of Mainz, Mainz, Germany
[14] Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Torino, Italy
[15] Pediatric Endocrinology, Cukurova University, Adana, Turkey
[16] Institute of Child Health, University of Birmingham, Birmingham, United Kingdom - Source
Diabetes (New York, NY). 2004, Vol 53, Num 7, pp 1876-1883, 8 p ; ref : 25 ref
- CODEN
- DIAEAZ
- ISSN
- 0012-1797
- Scientific domain
- Endocrinology; Nutrition, obesity, metabolic disorders
- Publisher
- American Diabetes Association, Alexandria, VA
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Diabète Endocrinopathie Génétique Mutation Wolcott Rallison syndrome Maladie héréditaire Malformation Syndrome complexe
- Keyword (en)
- Diabetes mellitus Endocrinopathy Genetics Mutation Wolcott Rallison syndrome Genetic disease Malformation Complex syndrome
- Keyword (es)
- Diabetes Endocrinopatía Genética Mutación Enfermedad hereditaria Malformación Síndrome complejo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21E Endocrine pancreas. Apud cells (diseases) / 002B21E01 Diabetes. Impaired glucose tolerance
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Endocrinopathies Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 15923076
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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