Objective To identify the COL7A1 gene mutation in a family with dy strophic epidermolysis bullosa pruriginosa.

目鉴定一痒疹样营养不良型大疱性表皮松解症家因突变,为进一步开展因诊断和因治疗奠定础。

Objective:To observe the clinical symptoms and analyze the hereditary features of a family with hereditary macrostomia and accessory fagus.

析1组面横裂及附耳家临床表现及遗传学特征。