Browsing Paediatrics by Subject "Alström syndrome"
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Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria
(2014)We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued. ...