Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
- Author
- ALLALI, Slimane1 ; LE GOFF, Carine1 ; DROUIN-GARRAUD, Valéie6 ; FLORI, Elisabeth7 ; GENEVIEE, David8 ; HENNEKAM, Raoul C9 ; HURST, Jane10 ; KRAKOW, Deborah11 ; LE MERRER, Martine1 ; LICHTENBELT, Klaske D12 ; LYNCH, Sally A13 ; LYONNET, Stanislas1 ; PRESSAC-DIEBOLD, Isabelle1 ; MACDERMOT, Kay3 ; MANSOUR, Sahar14 ; MEGARBANE, Andre15 ; SANTOS, Heloisa G16 ; SPLITT, Miranda17 ; SUPERTI-FURGA, Andrea18 ; UNGER, Sheila18 ; WILLIAMS, Denise19 ; MUNNICH, Arnold1 ; CORMIER-DAIRE, Valéie1 ; PFENNIG, Gwendoline1 ; MAHAUT, Cléentine1 ; DAGONEAU, Nathalie1 ; ALANAY, Yasemin2 ; BRADY, Angela F3 ; CROW, Yanick J4 ; DEVRIENDT, Koen5
[1] Department of Genetics, INSERM U781, Universite Paris Descartes, Hôpital Necker, Paris, France
[2] Genetics Unit, Department of Pediatrics Hacettepe, University School of Medicine, Ankara, Turkey
[3] North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom
[4] Genetic Medicine, University of Manchester, Manchester Academic Heath Science Centre, Central Manchester Foundation Trust University Hospitals, Manchester, United Kingdom
[5] Department of Medical Genetics, Leuven University Hospital, Leuven, Belgium
[6] Department of Medical Genetics, Hôpital Charles Nicolle, Rouen, France
[7] Department of genetics, Strasbourg hospital, Strasbourg, France
[8] Service de Genetique Méicale, Hôpital Arnaud de Villeneuve, Montpellier, France
[9] Department of Pediatrics, Academic Medical Center, University of Amsterdam, Netherlands
[10] Department of Clinical Genetics, Oxford Radcliffe Hospitals, United Kingdom
[11] Cedars Sinai Medical Center, Los Angeles, California, United States
[12] Department of Medical Genetics, University Medical Center, Utrecht, Netherlands
[13] National Center for Medical Genetics, Dublin, Ireland
[14] SW Thames Regional Genetics Service, St George's University of London, London, United Kingdom
[15] Unité de génétique médicale, Universite Saint Joseph, Beyrouth, Lebanon
[16] Départment of Medical Genetics, Lisboa, Portugal
[17] Institute of Human Genetics, Newcastle, United Kingdom
[18] Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
[19] West Midlands Regional Clinical Genetics Service, Birmingham Women's Hospital, Birmingham, United Kingdom - Source
Journal of medical genetics. 2011, Vol 48, Num 6, pp 417-421, 5 p ; ref : 9 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Déterminisme génétique Homme Maladie héréditaire Nanisme Syndrome complexe
- Keyword (en)
- Genetic determinism Human Genetic disease Dwarfism Complex syndrome
- Keyword (es)
- Determinismo genético Hombre Enfermedad hereditaria Enanismo 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
- 24232054
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
10.1136/jmg.2010.087544 
https://dx.doi.org/10.1136/jmg.2010.087544
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