Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype
- Author
- LICHTENBELT, K. D1 ; HOCHSTENBACH, R1 ; VAN DAM, W. M1 ; ELEVELD, M. J1 ; POOT, M1 ; BEEMER, F. A1
[1] Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, Netherlands - Source
American journal of medical genetics. = Neuropsychiatric genetics. 2005, Vol 132A, Num 1, pp 93-100, 8 p ; ref : 1 p.1/4
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- LIMK1 STX1A genetic counseling mosaicism speech retardation supernumerary ring chromosome 7
- Keyword (fr)
- Chromosome C7 Chromosome annulaire Chromosome surnuméraire Etude cas Gène Génétique Homme Mosaïcisme Phénotype Aberration chromosomique Aneuploïdie Chromosome anormal
- Keyword (en)
- Chromosome C7 Ring chromosome Supernumerary chromosome Case study Gene Genetics Human Mosaicism Phenotype Chromosomal aberration Aneuploidy Abnormal chromosome
- Keyword (es)
- Cromosoma C7 Cromosoma anular Cromosoma supernumerario Estudio caso Gen Genética Hombre Mosaicismo Fenotipo Aberración cromosómica Aneuploidía Cromosoma anormal
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16541484
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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