Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)
- Author
- MCQUADE, L1 ; CHRISTODOULOU, J1 2 3 ; BUDARF, M4 ; SACHDEV, R1 3 ; WILSON, M1 3 ; EMANUEL, B4 ; COLLEY, A1 5
[1] VCFS Research Group, Clinical Sciences, Royal Alexandra Hospital for Children, Parramatta, New South Wales, Australia
[2] Department of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia
[3] Western Sydney Genetics Program, Royal Alexandra Hospital for Children, Parramatta, New South Wales, Australia
[4] Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
[5] Department of Clinical Genetics, Liverpool Health Services, Liverpool, New South Wales, Australia - Source
American journal of medical genetics. = Neuropsychiatric genetics. 1999, Vol 86, Num 1, pp 27-33 ; ref : 39 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Bras long Chromosome G22 Déterminisme génétique Etude cas Fluorescence Gène Homme Hybridation moléculaire In situ Mutation Pathogénie Phénotype Vélocardiofacial syndrome Biologie moléculaire Génétique Syndrome complexe
- Keyword (en)
- Long arm Chromosome G22 Genetic determinism Case study Fluorescence Gene Human Molecular hybridization In situ Mutation Pathogenesis Phenotype Velocardiofacial syndrome Molecular biology Genetics Complex syndrome
- Keyword (es)
- Brazo largo Cromosoma G22 Determinismo genético Estudio caso Fluorescencia Gen Hombre Hibridación molecular In situ Mutación Patogenia Fenotipo Velocardiofacial síndrome Biología molecular Genética Síndrome complejo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Medical genetics Tropical medicine
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1974051
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/(SICI)1096-8628(19990903)86:1<27::AID-AJMG6>3.0.CO;2-7 
https://dx.doi.org/10.1002/(SICI)1096-8628(19990903)86:1<27::AID-AJMG6>3.0.CO;2-7
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