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1 record(s) found for principle investigator "Heon, Elise" (multi-year projects are grouped):
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Genetic Study of Bardet-Biedl Syndrome and Related Disorders
Principal Investigator: Heon, Elise
Licenced Year(s): 2006 2005
Summary: Bardet-Biedl Syndrome (BBS) is a multi-system condition that leads ultimately to blindness. This condition is also linked to shortened life expectancy due to kidney failure. Genital, digit and renal anomalies, obesity and a variable degree of cognitive impairment also characterize this disorder. The researchers have identified the genetic basis of BBS in Rae-Edzo. This study, which will be at leas...


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