Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father
- Author
- SMYK, M1 ; OBERSZTYN, E1 ; NOWAKOWSKA, B1 2 ; BOCIAN, E1 ; CHEUNG, S. W2 ; MAZURCZAK, T1 ; STANKIEWICZ, P1 2
[1] Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
[2] Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States - Source
American journal of medical genetics. Part A. 2007, Vol 143, Num 8, pp 866-870, 5 p ; ref : 1/2 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- SOX9 array CGH campomelic dysplasia microdeletion mosaicism
- Keyword (fr)
- Cellule somatique Délétion Facteur transcription Mosaïcisme Nanisme campomélique Père Récidivant Récidive Microdélétion Aberration chromosomique Maladie héréditaire Ostéochondrodysplasie Système ostéoarticulaire pathologie
- Keyword (en)
- Somatic cell Deletion Transcription factor Mosaicism Campomelic dysplasia Father Recurrent Relapse Microdeletion Chromosomal aberration Genetic disease Osteochondrodysplasia Diseases of the osteoarticular system
- Keyword (es)
- Célula somática Deleción Factor transcripción Mosaicismo Enanismo campomélico Padre Recidivante Recaida Microdeletion Aberración cromosómica Enfermedad hereditaria Osteocondrodisplasia Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Discipline
- Medical genetics Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18670495
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/ajmg.a.31631 
https://dx.doi.org/10.1002/ajmg.a.31631
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