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...

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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2003
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC379234/
https://ncbi.nlm.nih.gov/pubmed/12524598
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