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Double heterozygosity in bone growth disorders: Four new observations and review

Author
FLYNN, Maureen A1 ; PAULI, Richard M1 2
[1] Department of Medical Genetics, University of Wisconsin-Madison, Madison, Wisconsin, United States
[2] Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin, United States
Source

American journal of medical genetics. = Neuropsychiatric genetics. 2003, Vol 121A, Num 3, pp 193-208, 16 p ; ref : 23 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
achondroplasia bone dysplasia hypochondroplasia natural history osteochondrodysplasia osteogenesis imperfecta pseudo- achondroplasia spondylo- epiphyseal dysplasia
Keyword (fr)
Achondroplasie Dysplasie spondyloépiphysaire pseudoachondroplasique Dysplasie spondyloépiphysaire Déterminisme génétique Développement Etude cas Homme Hétérozygotie Os Ostéogenèse imparfaite Pathogénie Phénotype Revue bibliographique Maladie héréditaire Ostéochondrodysplasie Système ostéoarticulaire pathologie
Keyword (en)
Achondroplasia Pseudoachondroplastic spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia Genetic determinism Development Case study Human Heterozygosity Bone Osteogenesis imperfecta Pathogenesis Phenotype Bibliographic review Genetic disease Osteochondrodysplasia Diseases of the osteoarticular system
Keyword (es)
Acondroplasia Displasia espondiloepifisaria seudoacondroplásica Displasia espondiloepifisaria Determinismo genético Desarrollo Estudio caso Hombre Heterozigosis Hueso Osteogénesis imperfecta Patogenia Fenotipo Revista bibliográfica 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
Osteoarticular pathology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
15067408

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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