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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2003
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC379234/
https://ncbi.nlm.nih.gov/pubmed/12524598
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