EDA Gene Mutations Underlie Non-syndromic Oligodontia

doi:10.1177/0022034508328627

CORC > 北京大学 > 生命科学学院

	EDA Gene Mutations Underlie Non-syndromic Oligodontia
	Song, S. ; Han, D. ; Qu, H. ; Gong, Y. ; Wu, H. ; Zhang, X. ; Zhong, N. ; Feng, H.
刊名	journal of dental research
	2009
关键词	EDA gene oligodontia mutation non-syndromic HYPOHIDROTIC ECTODERMAL DYSPLASIA TOOTH AGENESIS MISSENSE MUTATION ECTODYSPLASIN-A HYPODONTIA ANOMALIES HOMEODOMAIN PROTEIN ABSENCE FAMILY
DOI	10.1177/0022034508328627
英文摘要	Recent studies have detected mutations in the EDA gene, previously identified as causing X-linked hypohidrotic ectodermal dysplasia (XLHED), in two families with X-linked non-syndromic hypodontia. Notably, all affected males in both families exhibited isolated oligodontia, while almost all female carriers showed a milder or normal phenotype. We hypothesized that the EDA gene could be responsible for sporadic non-syndromic oligodontia in affected males. In this study, we examined 15 unrelated males with non-syndromic oligodontia. Three novel EDA mutations (p.Ala259Glu, p. Arg289Cys, and p.Arg334His) were identified in four individuals (27%). A genetic defect in the EDA gene could result in non-syndromic oligodontia in affected males.; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000263913000004&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=8e1609b174ce4e31116a60747a720701 ; Dentistry, Oral Surgery & Medicine; SCI(E); PubMed; 34; ARTICLE; 2; 126-131; 88
语种	英语
内容类型	期刊论文
源URL	[http://ir.pku.edu.cn/handle/20.500.11897/345194]
专题	生命科学学院
推荐引用方式 GB/T 7714	Song, S.,Han, D.,Qu, H.,et al. EDA Gene Mutations Underlie Non-syndromic Oligodontia[J]. journal of dental research,2009.
APA	Song, S..,Han, D..,Qu, H..,Gong, Y..,Wu, H..,...&Feng, H..(2009).EDA Gene Mutations Underlie Non-syndromic Oligodontia.journal of dental research.
MLA	Song, S.,et al."EDA Gene Mutations Underlie Non-syndromic Oligodontia".journal of dental research (2009).