Objective: To detect ED1 gene mutation in three hypohidrotic ectodermal dysplasia ( HED) nuclear families. 目的:研究少汗性外胚叶发育不全引起先天缺牙的ED1基因突变。
Analysis of saliva from the patients with hypohidrotic ectodermal dysplasia 少汗型外胚层发育不良症患者全唾液分析
ABSTRACT: Objective To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia. 摘要:目的利用直接测序法对一中国汉族人X性连锁少汗性外胚叶发育不良家系进行基因诊断。
A clinical and laboratory study on a case of hypohidrotic ectodermal dysplasia ( HED) accompanied by oligodontia HED伴多数牙先天缺失1例的临床研究
Objective To detect ED1 gene mutations in the families with X-linked hypohidrotic ectodermal dysplasia ( XLHED). 目的探讨X性连锁少汗性外胚层发育不良(XLHED)家系中ED1基因突变。
RESULTS: The patient was diagnosed as X-linked hypohidrotic ectodermal dysplasia. 结果:确证该患者是X染色体隐性遗传的外胚层发育不全无汗综合征;
Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: Further characterization 少汗性外胚叶发育不良家族中毛发和汗腺的进一步观察