نتایج جستجو برای: recessive epidermolysis bullosa

تعداد نتایج: 25672  

Journal: :Dermatology 1995
E Masgrau-Peya M Lacour D Salomon

Journal: :Journal of Investigative Dermatology 2022

Pathogenic variants in ITGB4 cause various forms of autosomal recessive epidermolysis bullosa (EB). encodes integrin-β4, which plays a critical role the maintenance skin basement membrane integrity. Here, we aimed to delineate genetic basis dominant isolated nail dystrophy 2 families. We studied total five affected individuals with and no other cutaneous or extra-cutaneous findings. Whole exome...

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