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表皮松解症家系的因突变,为进一步开展
因诊断和
因治疗奠定
。
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表皮松解症家系的因突变,为进一步开展
因诊断和
因治疗奠定
。
Objective:To observe the clinical symptoms and analyze the hereditary features of a family with hereditary macrostomia and accessory fagus.
1
面横裂及附耳家系的临床表现及遗传学特征。
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