Molecular-pathogenetic classification of genetic disorders of the skeleton.

Détails

ID Serval
serval:BIB_A304C9F2A9B7
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Molecular-pathogenetic classification of genetic disorders of the skeleton.
Périodique
American Journal of Medical Genetics
Auteur⸱e⸱s
Superti-Furga A., Bonafé L., Rimoin D.L.
ISSN
0148-7299
Statut éditorial
Publié
Date de publication
2001
Peer-reviewed
Oui
Volume
106
Numéro
4
Pages
282-293
Langue
anglais
Résumé
Genetic disorders of the skeleton (skeletal dysplasias and dysostoses) are a large and disparate group of diseases whose unifying features are malformation, disproportionate growth, and deformation of the skeleton or of individual bones or groups of bones. To cope with the large number of different disorders, the "Nosology and Classification of the Osteochondrodysplasias," based on clinical and radiographic features, has been designed and revised periodically. Biochemical and molecular features have been partially implemented in the Nosology, but the rapid accumulation of knowledge on genes and proteins cannot be easily merged into the clinical-radiographic classification. We present here, as a complement to the existing Nosology, a classification of genetic disorders of the skeleton based on the structure and function of the causative genes and proteins. This molecular-pathogenetic classification should be helpful in recognizing metabolic and signaling pathways relevant to skeletal development, in pointing out candidate genes and possible therapeutic targets, and more generally in bringing the clinic closer to the basic science laboratory and in promoting research in this field.
Mots-clé
Bone Diseases, Developmental, Humans
Pubmed
Web of science
Création de la notice
21/01/2008 12:50
Dernière modification de la notice
20/08/2019 15:08
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