Genotype and phenotype variability in Sjögren-Larsson syndrome
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چکیده
منابع مشابه
Karl Gustaf Torsten Sjögren and Sjögren-Larsson syndrome
Karl Gustaf Torsten Sjögren (1896-1974), (Figure 1), a Swedish psychiatrist and geneticist, was a pioneer of modern Swedish psychiatry.1-4 Sjögren studied medicine at the University of Uppsala.1 From 1932 to 1935, he was Head Physician and Director of Lillehagen Hospital in Gothenburg, and between 19351945, he was physician-in-chief at the psychiatric department of Sahlgrenska Hospital in Gothe...
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Sjogren-Larsson syndrome, first described by Sjogren in 1956, and then jointly with Larsson in 1957, is known to occur in different populations throughout the world (Blumel, Watkins, and Eggers, 1958; Richards, 1960; Link and Roldan, 1958; Zaleski, 1962; Heijer and Reed, 1965; Selmanowitz and Porter, 1967). The condition appears to be a clinical and pathological entity characterized by ichthyos...
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Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if int...
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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 investigation...
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However, some of these patients develop SCARs related to sorafenib, such as Drug Reaction with Eosynophilia and Systemic Symptoms (DRESS), SJS or AGEP.5,6,8,9 To our knowledge, only 2 more cases of sorafenib-induced acute exanthematous pustulosis have been published, being one of them an acute localized exanthematous pustulosis (ALEP) and the other one a complete AGEP.5,6 The main features of t...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2018
ISSN: 1059-7794
DOI: 10.1002/humu.23679