نتایج جستجو برای: kindler syndrome

تعداد نتایج: 622010  

Journal: :Collegium antropologicum 2010
Lena Kotrulja Suzana Ozanić-Bulić Ines Sjerobabski-Masnec Mirna Situm Sanja Poduje

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...

Journal: :Indian Journal of Dermatology, Venereology, and Leprology 2011

2013
Coert Margadant Maaike Kreft Giovanna Zambruno Arnoud Sonnenberg

Loss-of-function mutations in the gene encoding the integrin co-activator kindlin-1 cause Kindler syndrome. We report a novel kindlin-1-deficient keratinocyte cell line derived from a Kindler syndrome patient. Despite the expression of kindlin-2, the patient's cells display several hallmarks related to reduced function of β1 integrins, including abnormal cell morphology, cell adhesion, cell spr...

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