Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)

Bardet-Biedl syndrome (BBS) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. Patients with BBS are also at increased risk for diabetes mellitus, hypertension, and congenital heart disease. BB...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Mykytyn, Kirk, Nishimura, Darryl Y., Searby, Charles C., Beck, Gretel, Bugge, Kevin, Haines, Heidi L., Cornier, Alberto S., Cox, Gerald F., Fulton, Anne B., Carmi, Rivka, Iannaccone, Alessandro, Jacobson, Samuel G., Weleber, Richard G., Wright, Alan F., Riise, Ruth, Hennekam, Raoul C. M., Lüleci, Güven, Berker-Karauzum, Sibel, Biesecker, Leslie G., Stone, Edwin M., Sheffield, Val C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2003
Schlagworte:
Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC379234/
https://ncbi.nlm.nih.gov/pubmed/12524598
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge