نتایج جستجو برای: kindler
تعداد نتایج: 219 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...
Photosensitivity in childhood is caused by a diverse group of diseases. A specific sensitivity of a child's skin to ultraviolet light is often the first manifestation or a clinical symptom of photodermatosis. It might indicate a serious underlying systemic disease such as lupus erythematosus or dermatomyositis, or a rare group of genetic skin disorders like Xeroderma pigmentosum, Cockayne syndr...
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C. Nociforo 1,# , A. Prochazka 1,2 , R. Kanungo 3 , T. Aumann 1 , D. Boutin 2 , D. Cortina-Gil 4 , B. Davids 5 , M. Diakaki 6 , F. Farinon 1,2 , H. Geissel 1 , R. Gernhäuser 7 , R. Janik 8 , B. Jonson 9 , B. Kindler 1 , R.Knöbel 1,2 , R. Krücken 7 , N. Kurz 1 , M. Lantz 9 , H. Lenske 2 , Yu.A. Litvinov 1, , B. Lommel 1 , K.Mahata 1 , P. Maierbeck 7 , A. Musumarra 10,11 , T. Nilsson 9 , C. Perro...
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