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Monozygotic twin brothers with the fragile X syndrome : different CGG repeats and different mental capacities

Author
HELDERMAN-VAN DEN ENDEN, A. T. J. M1 ; MAASWINKEL-MOOIJ, P. D2 ; HOOGENDOORN, E1 3 ; WILLEMSEN, R4 ; MAAT-KIEVIT, J. A1 4 ; LOSEKOOT, M1 3 ; OOSTRA, B. A4
[1] Department of Clinical Genetics, K5-R, Leiden, University Medical Centre, PO Box 9600, 2300 RC Leiden, Netherlands
[2] Department of Paediatrics, Leiden University Medical Centre, 2300 RC Leiden, Netherlands
[3] MGC Department of Human Genetics, Leiden University Medical Centre, 2300 RC Leiden, Netherlands
[4] MGC Department of Clinical Genetics, Erasmus University, Rotterdam, Netherlands
Source

Journal of medical genetics. 1999, Vol 36, Num 3, pp 253-257 ; ref : 18 ref

CODEN
JMDGAE
ISSN
0022-2593
Scientific domain
Genetics
Publisher
BMJ, London
Publication country
United Kingdom
Document type
Article
Language
English
Keyword (fr)
Arriération mentale Caractère lié au sexe Chromosome X Déterminisme génétique Enfant Etude cas Etude familiale Fragilité chromosomique Jumeau monozygote Mosaïcisme Pathogénie Phénotype Prémutagène Séquence répétée Trinucléotide Déficience intellectuelle Homme Trouble développement
Keyword (en)
Mental retardation Sex linked character X-Chromosome Genetic determinism Child Case study Family study Chromosome fragility Monozygotic twin Mosaicism Pathogenesis Phenotype Premutagen Repeated sequence Trinucleotide Intellectual deficiency Human Developmental disorder
Keyword (es)
Retraso mental Carácter ligado al sexo Cromosoma X Determinismo genético Niño Estudio caso Estudio familiar Fragilidad cromosómica Gemelo monozigótico Mosaicismo Patogenia Fenotipo Premutágeno Secuencia repetida Trinucleótido Deficiencia intelectual Hombre Trastorno desarrollo
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23C Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)

Discipline
Medical genetics
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
1726762

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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