外胚层发育不良先天性水肿

先天性外皮发育不良 (D.E.C.H) 是一种罕见的遗传性疾病，其特征是外珠被形态异常。营养不良过程的发生发生在表皮、真皮、结缔组织以及皮肤和粘膜表面的其他区域。该疾病的病因在于位于该区域的 HPP12-TACN 基因突变

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Dr. William Whitbourne

Dr. William Whitbourne