Report of a Black South African Child With Oculodentodigital Dysplasia and a Novel GJA1 Gene Mutation
- Author
- FELLER, Liviu1 ; WOOD, Neil H1 ; SLUITER, Michelle D2 ; NOFFKE, Claudia3 ; RAUBENHEIMER, Erich J4 ; LEMMER, Johan1 ; VAN RENSBURG, Elizabeth J2
[1] Department of Periodontology and Oral Medicine, School of Dentistry, University of Limpopo (Medunsa Campus), Pretoria, South Africa
[2] Department of Genetics, University of Pretoria, Pretoria, South Africa
[3] Section of Maxillo-Facial Radiology, School of Dentistry, University of Limpopo (Medunsa Campus), Pretoria, South Africa
[4] Department of Oral Pathology, School of Dentistry, University of Limpopo (Medunsa Campus), Pretoria, South Africa - Source
American journal of medical genetics. Part A. 2008, Vol 146, Num 10, pp 1350-1353, 4 p ; ref : 1/4 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Dysplasie oculodentodigitale Enfant Gène Mutation Afrique du Sud Homme Maladie héréditaire Ostéochondrodysplasie Pathologie de l'oeil Pathologie du système ostéoarticulaire Stomatologie Afrique
- Keyword (en)
- Oculodentodigital dysplasia Child Gene Mutation South Africa Human Genetic disease Osteochondrodysplasia Eye disease Diseases of the osteoarticular system Stomatology Africa
- Keyword (es)
- Displasia oculodentodigital Niño Gen Mutación Sudáfrica Hombre Enfermedad hereditaria Osteocondrodisplasia Ojo patología Sistema osteoarticular patología Estomatología Africa
- 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
- 20320473
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.32272 
https://dx.doi.org/10.1002/ajmg.a.32272
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