Nosology and classification of genetic skeletal disorders: 2010 revision.

Détails

Ressource 1Télécharger: BIB_31F9B1D3B25E.P001.pdf (179.85 [Ko])
Etat: Public
Version: de l'auteur
ID Serval
serval:BIB_31F9B1D3B25E
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
Nosology and classification of genetic skeletal disorders: 2010 revision.
Périodique
American Journal of Medical Genetics. Part A
Auteur(s)
Warman M.L., Cormier-Daire V., Hall C., Krakow D., Lachman R., Lemerrer M., Mortier G., Mundlos S., Nishimura G., Rimoin D.L., Robertson S., Savarirayan R., Sillence D., Spranger J., Unger S., Zabel B., Superti-Furga A.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2011
Volume
155
Numéro
5
Pages
943-968
Langue
anglais
Résumé
Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagnostic entities and groups them by clinical and radiographic features and molecular pathogenesis. The aim is to provide the Genetics, Pediatrics and Radiology community with a list of recognized genetic skeletal disorders that can be of help in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists interested in skeletal biology. In the 2010 revision, 456 conditions were included and placed in 40 groups defined by molecular, biochemical, and/or radiographic criteria. Of these conditions, 316 were associated with mutations in one or more of 226 different genes, ranging from common, recurrent mutations to "private" found in single families or individuals. Thus, the Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene. The Nosology should be useful for the diagnosis of patients with genetic skeletal diseases, particularly in view of the information flood expected with the novel sequencing technologies; in the delineation of clinical entities and novel disorders, by providing an overview of established nosologic entities; and for scientists looking for the clinical correlates of genes, proteins and pathways involved in skeletal biology. © 2011 Wiley-Liss, Inc.
Pubmed
Web of science
Création de la notice
08/06/2011 9:36
Dernière modification de la notice
20/08/2019 14:17
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