Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

doi:10.1016/j.ymgme.2018.07.010

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Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

Molecular genetics and metabolism - 1 Sept 2018

Waldman Meryl, Han Joan C, Reyes-Capo Daniela P, Bryant Joy, Carson Kathryn A, Turkbey Baris, Choyke Peter, Naggert Jürgen K, Gahl William A, Marshall Jan D, Gunay-Aygun Meral

Abstract excerpt

Alström Syndrome is a ciliopathy associated with obesity, insulin resistance/type 2 diabetes mellitus, cardiomyopathy, retinal degeneration, hearing loss, progressive liver and kidney disease, and normal cognitive function. ALMS1, the protein defective in this disorder, localizes to the cytoskeleton, microtubule organizing center, as well as the centrosomes and ciliary basal bodies and plays roles in formation...

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Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

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