Familial variable expression of dilated cardiomyopathy in Alström syndrome: A report of four sibs

Author:

Hoffman J.D.,Jacobson Z.,Young T.L.,Marshall J.D.,Kaplan Paige

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference5 articles.

1. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness. A specific syndrome (not hitherto described) distinct from Lawrence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree;Alström;Acta Psychiatr Neurol Scand,1959

2. Mutations in ALMS1 cause obesity, type 2 diabetes, and neurosensory degeneration in Alström syndrome;Collin;Nat Genet,2002

3. Mutations of ALMS 1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome;Hearn;Nat Genet,2002

4. Analysis of human Y-chromosome specific reiterated DNA in chromosome variants;Kunkel;Proc Natl Acad Sci USA,1977

5. Natural history of Alström syndrome in early childhood: Onset with dilated cardiomyopathy;Michaud;J Pediatr,1996

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