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

目的鉴定一痒疹样营养不良型大疱性皮松解症家系的基因突变,为进一步开展基因诊断和基因治疗奠定基础。

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

析1组面横裂及附耳家系的临床现及遗传学特征。