Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family
- Author
- DEBEER, Philippe1 2 ; PYKELS, E1 ; LAMMENS, J2 ; DEVRIENDT, K1 ; FRYNS, J.-P1
[1] Centre for Human Genetics, University Hospital Leuven, Herestraat, Leuven, Belgium
[2] Department of Orthopedics, University Hospital Pellenberg, Weligerveld, Pellenberg, Belgium - Source
American journal of medical genetics. = Neuropsychiatric genetics. 2003, Vol 119A, Num 2, pp 188-193, 6 p ; ref : 16 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- melorheostosis osteopoikilosis postzygotic mutation
- Keyword (fr)
- Caractère autosomique Caractère dominant Etude familiale Homme Maladie héréditaire Mélorhéostose Ostéopoecilie Ostéochondrodysplasie Système ostéoarticulaire pathologie
- Keyword (en)
- Autosomal character Dominant character Family study Human Genetic disease Melorheostosis Osteopoikilosis Osteochondrodysplasia Diseases of the osteoarticular system
- Keyword (es)
- Carácter autosómico Carácter dominante Estudio familiar Hombre Enfermedad hereditaria Meloreostosis Osteopoiquilia 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
- Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14789826
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.20072 
https://dx.doi.org/10.1002/ajmg.a.20072
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