Objective To analyze genetic types and clinical features with anhidrotic ectodermal dysplasia ( EDA). 目的分析无汗性外胚叶发育不全的遗传类型和临床特点。
Objetive: To detect the gene mutation of a patient with anhidrotic ectodermal dysplasia. 目的:检测无汗性外胚层发育不全患者的EDA基因的突变。
Objective To investigate the possibility of prenatal diagnosis of the fetal suspected to be affected by anhidrotic ectodermal dysplasia ( EDA) in a family with X-linked EDA so as to provide a basis for prenatal diagnosis and genetic counseling of this disorder. 目的探讨对X连锁无汗性外胚叶发育不良(EDA)家系的EDA患胎进行产前诊断的可能性,为建立对该病的产前诊断及遗传咨询提供依据。
This article reports a case of anhidrotic ectodermal dysplasia associated with giant type granuloma annulare. 报告1例无汗性外胚叶发育不良伴巨大型环状肉芽肿。
Prenatal diagnosis of X-linked anhidrotic ectodermal dysplasia with X-chromosome inversion X染色体倒位伴X连锁无汗性外胚叶发育不良一个家系的产前诊断
Gene mutation detection for a patient with anhidrotic ectodermal dysplasia 无汗性外胚层发育不全患者EDA基因突变检测
Anhidrotic ectodermal dysplasia with spontaneous corneal perforation and keratoconus 无汗性外胚层发育不良伴特发性角膜穿孔和圆锥角膜的病例
A family with anhidrotic ectodermal dysplasia ( AED) is reported. There were 8 male and 6 female patients in the family, and the male to female ratio was approximately 1 ∶ 1 and the condition belonged to autosomal dominant inheritance. 报道了无汗性外胚叶发育不全(EDA)一家系,患者既有男性,又有女性,男女比例接近1∶1,属常染色体显性遗传。