polydactyly/triglyceride

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Chromosome 8 congenic strains: tools for genetic analysis of limb malformation, plasma triglycerides, and blood pressure in the rat.

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Congenic strains with the polydactyly-luxate syndrome (PLS), the BN.lx and Lew.lx, were originally derived to study the expression and mode of inheritance of the lx mutant gene on rat chromosome 8. The BN.lx PLS congenic strain together with the spontaneously hypertensive SHR strain served as

Ciliopathy: Alström Syndrome.

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Alström syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and renal failure. Patients present in childhood with photophobia

Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.

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Bardet-Biedl syndrome is a rare ciliopathy characterized by retinal dystrophy, obesity, intellectual disability, polydactyly, hypogonadism and renal impairment. Patients are at high risk of cardiovascular disease. Mutations in BBS1 and BBS10 account for more than half of those with molecular

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