Associated Papers
Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.
Long PA et al.
Journal of Cardiovascular Development and Disease, 2017
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
Alström Syndrome: Mutation Spectrum of ALMS1.
Marshall JD et al.
Human Mutation, 2015
Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy.
Long PA et al.
American Journal of Medical Genetics. Part A, 2015
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
Ozantürk A et al.
Journal of Human Genetics, 2015
Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.
Kuburović V et al.
Clinical Dysmorphology, 2013
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