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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

CODEN
AJMGDA
ISSN
0148-7299
Scientific domain
Genetics
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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