How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
- Author
- BANKA, Siddharth1 ; VEERAMACHANENI, Ratna1 ; METCALFE, Kay1 ; CHANDLER, Kate1 ; MAGEE, Alex5 ; STEWART, Fiona5 ; MCCONNELL, Vivienne Pm5 ; DONNELLY, Deirdre E5 ; BERLAND, Siren6 ; HOUGE, Gunnar6 ; MORTON, Jenny E7 ; OLEY, Christine7 ; REARDON, William2 ; REVENCU, Nicole8 ; PARK, Soo-Mi9 ; DAVIES, Sally J10 ; FRY, Andrew E10 ; ANN LYNCH, Sally2 ; GILL, Harinder2 ; SCHWEIGER, Susann11 ; LAM, Wayne Wk12 ; TOLMIE, John13 ; MOHAMMED, Shehla N14 ; HOWARD, Emma1 ; HOBSON, Emma15 ; SMITH, Audrey15 ; BLYTH, Moira15 ; BENNETT, Christopher15 ; VASUDEVAN, Pradeep C16 ; GARCIA-MINAUR, Sixto17 ; HENDERSON, Alex18 ; GOODSHIP, Judith18 22 ; WRIGHT, Michael J18 ; FISHER, Richard19 ; BUNSTONE, Sancha1 ; GIBBONS, Richard20 ; PRICE, Susan M20 ; DE SILVA, Deepthi C21 ; KAREN TEMPLE, I3 ; COLLINS, Amanda L3 ; LACHLAN, Katherine3 ; ELMSLIE, Frances23 ; MCENTAGART, Meriel23 ; CASTLE, Bruce24 ; CLAYTON-SMITH, Jill1 ; RAGGE, Nicola3 ; BLACK, Graeme C1 ; DONNAI, Dian1 ; PARKER, Michael J4 ; CROW, Yanick J1 ; KERR, Bronwyn1 ; KINGSTON, Helen1
[1] Department of Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester, United Kingdom
[2] National Centre for Medical Genetics, Our Lady's Children's Hospital, Dublin, Ireland
[3] Wessex clinical Genetics Service, University Hospital Southampton NHS Trust and Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, United Kingdom
[4] Department of Clinical Genetics, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom
[5] Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, United Kingdom
[6] Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
[7] CIinical Genetics Unit, Birmingham Women's Hospital, Birmingham, United Kingdom
[8] Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium
[9] Department of Clinical Genetics, East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, United Kingdom
[10] All Wales Medical Genetics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom
[11] Division of Medical Sciences, University of Dundee, Dundee, United Kingdom
[12] South East of Scotland Clinical Genetic Service, Molecular Medicine Centre, Western General Hospital, Edinburgh, United Kingdom
[13] Clinical Genetics Department, Yorkhill Hospitals, Glasgow, United Kingdom
[14] Clinical Genetics, Guy's Hospital, London, United Kingdom
[15] Yorkshire Regional Genetic Service, Leeds, United Kingdom
[16] Department of Clinical Genetics, Leicester Royal Infirmary Leicester, United Kingdom
[17] Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain
[18] Northern Genetics Service, Newcastle upon Tyne Hospitals, Newcastle upon Tyne, United Kingdom
[19] Northern Genetics Service, Teesside Genetics Unit, The James Cook University Hospital, Middlesbrough, United Kingdom
[20] Department of Clinical Genetics, Churchill Hospital, Oxford, United Kingdom
[21] Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka
[22] Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
[23] Department of Medical Genetics, St George's Hospital, London, United Kingdom
[24] Clinical Genetics Department, Royal Devon and Exeter Hospital, Exeter, United Kingdom - Source
European journal of human genetics. 2012, Vol 20, Num 4, pp 381-388, 8 p ; ref : 15 ref
- Publisher
- Nature Publishing Group, Basingstoke
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- Kabuki syndrome MLL2 facial dysmorphism genetic heterogeneity mutation spectrum
- Keyword (fr)
- Article synthèse Dysmorphie faciale Génétique Homme Hétérogénéité Malade Mutation Phénotype Revue bibliographique Spectre Syndrome de Kabuki Malformation Stomatologie Syndrome complexe
- Keyword (en)
- Review Dysmorphic facies Genetics Human Heterogeneity Patient Mutation Phenotype Bibliographic review Spectrum Kabuki make-up syndrome Malformation Stomatology Complex syndrome
- Keyword (es)
- Artículo síntesis Dismorfia facial Genética Hombre Heterogeneidad Enfermo Mutación Fenotipo Revista bibliográfica Espectro Kabuki make-up síndrome Malformación Estomatología Síndrome complejo
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- 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 / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 25615557
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
10.1038/ejhg.2011.220 
https://dx.doi.org/10.1038/ejhg.2011.220
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arXiv access
