Article
Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.
Clinical genetics - 1 Jul 2014
Ezgu F, Krejci P, Li S, de Sousa C, Graham J M, Hansmann I, He W, Porpora K, Wand D, Wertelecki W, Schneider A, Wilcox W R
Abstract excerpt
Marinesco-Sjögren syndrome (MSS; MIM 248800) is an autosomal recessive disorder characterized by congenital cerebellar ataxia, early cataracts, developmental delay, myopathy and short stature. Alterations in the gene SIL1 cause MSS in some patients with typical findings. In this study, molecular investigations including sequencing of the SIL1 gene, western blotting and microscopic investigations in fibroblast...
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