نتایج جستجو برای: kindler syndrome
تعداد نتایج: 622010 فیلتر نتایج به سال:
BACKGROUND Kindler syndrome (KS) is a rare genetic disorder that is characterized by blistering in infancy, followed by the onset of poikiloderma and photosensitivity in childhood. The recently elucidated molecular pathogenesis involves mutations in KIND1, a gene encoding the protein kindlin-1, which is involved in the attachment of the actin cytoskeleton to the extracellular matrix in basal ke...
Based on carbamazepine's hypothesized ability to stabilize temporal lobe seizures and behavioral disorders and its ability to inhibit limbic system excitability in models such as kindling, we undertook this study with the aims of finding out the response of carbamazepine in kindler and non kindler groups and to see the relationship of socio-demographic and clinical variables in kindler and non-...
BACKGROUND Kindler Syndrome (KS) is an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, premature aging, and propensity to skin cancer. In spite of the knowledge underlying cause of this disease involving mutations of FERMT1 (fermitin family member 1), and efforts to characterize genotype-phenotype correlations, the clinical variability of this genodermatosi...
Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullosa with py...
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