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First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama   +6 more
wiley   +1 more source

Dual Topical Therapy. The Future of Stretch Marks?

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Striae distensae, or stretch marks, are linear scars that result from mechanical stretching of dermal tissue. They are most prevalent in women and in pregnancy, puberty, and obesity. The psychological and cosmetic symptoms may present a pathological synergy with the physical distress that stretch marks represent, especially if the patient is ...
Vicente Manuel Cisneros Rosell   +1 more
wiley   +1 more source

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