Deutsch
 
Hilfe Datenschutzhinweis Impressum
  DetailsucheBrowse

Datensatz

 
 
DownloadE-Mail
  Nosology and classification of genetic skeletal disorders: 2010 revision

Warman, M. L., Cormier-Daire, V., Hall, C., Krakow, D., Lachman, R., LeMerrer, M., et al. (2011). Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A, 155A(5), 943-68. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/21438135 http://onlinelibrary.wiley.com/store/10.1002/ajmg.a.33909/asset/33909_ftp.pdf?v=1&t=gyzw99p6&s=2565ef2d6b1fc744dc24d14b954faf5519d5a0b1.

Item is

Externe Referenzen

einblenden:

Urheber

einblenden:
ausblenden:
 Urheber:
Warman, M. L., Autor
Cormier-Daire, V., Autor
Hall, C., Autor
Krakow, D., Autor
Lachman, R., Autor
LeMerrer, M., Autor
Mortier, G., Autor
Mundlos, S.1, Autor           
Nishimura, G., Autor
Rimoin, D. L., Autor
Robertson, S., Autor
Savarirayan, R., Autor
Sillence, D., Autor
Spranger, J., Autor
Unger, S., Autor
Zabel, B., Autor
Superti-Furga, A., Autor
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

Inhalt

einblenden:
ausblenden:
Schlagwörter: Bone Diseases/*classification; Genetic Diseases, Inborn/*classification; Humans; Mutation
 Zusammenfassung: 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.

Details

einblenden:
ausblenden:
Sprache(n):
 Datum: 2011
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Art des Abschluß: -

Veranstaltung

einblenden:

Entscheidung

einblenden:

Projektinformation

einblenden:

Quelle 1

einblenden:
ausblenden:
Titel: Am J Med Genet A
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 155A (5) Artikelnummer: - Start- / Endseite: 943 - 68 Identifikator: ISSN: 1552-4833 (Electronic) 1552-4825 (Linking)