1) X-linked hypohidrotic ectodermal dysplasia
X-连锁无汗性外胚层发育不良
1.
Prenatal diagnosis in one family with X-linked hypohidrotic ectodermal dysplasia;
X-连锁无汗性外胚层发育不良家系1例产前诊断
2) X-linked ahidrotic ectodermal dysplasia
X连锁无汗性外胚叶发育不全
1.
PURPOSE: Detect EDI gene mutations in two Chinese pedigrees and a sporadic case with X-linked ahidrotic ectodermal dysplasia and the mutation analysis allows for genetic counseling, prenatal diagnosis and confirmation of carrier status.
目的:探讨国内X连锁无汗性外胚叶发育不全家系中ED1基因的突变情况,为该病的遗传咨询、产前诊断、确诊携带者提供依据。
3) hidrotic ectodermal dysplasia
有汗型外胚层发育不良
1.
Mutation screening and prenatal diagnosis of hidrotic ectodermal dysplasia in a Chinese family;
有汗型外胚层发育不良一家系的Cx30基因突变检测及产前诊断
4) Hypohidrotic ectodermal dysplasia,EDA gene
先天性外胚层发育不全无汗综合症
5) Hypohidrotic ectodermal dysplasia
先天性外胚层发育不全无汗综合征
1.
Hypohidrotic ectodermal dysplasia with X-linked recessive inheritance in a family:Case report and relative review
先天性外胚层发育不全无汗综合征家系报告及文献复习
6) Hypohidrotic ectodermal dysplasia
少汗型外胚层发育不良症
1.
Mutation analysis of the eda-A1 gene for hypohidrotic ectodermal dysplasia and construction of recombined eukaryotic expression vector
少汗型外胚层发育不良症eda-A1基因突变分析及其真核表达载体的构建
补充资料：常染色体隐性遗传型少汗性外胚层发育不良综合征
常染色体隐性遗传型少汗性外胚层发育不良综合征
本病为常染色体隐性遗传，但据观察其临床表现不能与X连锁遗传者相区别，自然病程也与之相似，只是臭鼻症(恶臭，化脓性鼻分泌物排出)更重。其父母均正常。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条