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- Hidrotic ectodermal dysplasia syndrome 出汗性外胚层发育不良综合征
- hypohidrotic ectodermal dysplasia syndrome 少汗性外胚层发育不良综合征
- anhidrotic ectodermal dysplasia syndrome 无汗性外胚层发育不全综合征
- Rapp-Hodgkin ectodermal dysplasia syndrome Rapp-Hodgkin外胚层发育不良综合征, 拉-霍外胚层发育不全综合征
- Autosomal dominant hypohidrotic ectodermal dysplasia syndrome 常染色体显性遗传型少汗外胚层发育不良综合征
- Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 常染色体隐性遗传型少汗外胚层发育不良综合征
- ectodermal dysplasia syndrome 外胚叶发育异常(少汗)综合征
- Ectodermal dysplasia(ED)is an X-linked inherited disease. 外胚层发育不全为一遗传疾病，最常见的是性联缺汗性类型。
- Diagnosis:anhidrotic ectodermal dysplasia(incompletely type). 诊断:无汗性外胚叶发育不良(不完全型)。
- Objective: To investigate the clinical and genetic features of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome (EEC) in Chinese kindreds. 摘要目的：探讨先天缺指（趾）-外胚叶发育不良-唇／腭裂综合征(EEC)的临床表型和遗传学特点。
- Hay-Wells Syndrome (HWS), also known as the ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, is one of at least 150 known types of ectodermal dysplasia. 什么是'海伊井综合征-罕见的先天性条件影响皮肤头发和指甲'?
- This paper reported a rarely seen case with hypohidrotic ectodermal dysplasia. 报告1例少汗性外胚叶发育不全病例。
- 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。
- Methods: Peripheral blood samples were obtained from three different families of hypohidrotic ectodermal dysplasia. 方法:对3个少汗性外胚叶发育不全核心家系进行外周血基因组DNA的提取。
- 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。
- Ectodermal dysplasia appears in two froms, hidrotic and anhidrotic, according to clinical features and hereditary characteristics. 摘要外胚层异常症，依照临床表徵及遗传特性，可分成无汗型与出汗型两大类。
- Hypohydrotic ectodermal dysplasia is a common group of hereditary diseases, with congenital tooth loss as the predominant oral symptom. 少汗型外胚层发育不良症是一类相对常见的遗传性综合性疾病,先天性牙缺失是此类疾病的主要口腔表现。
- Ectodermal dysplasia(ED)is an X-linked inherited disease.The most common is the hypohidrotic X-linked form affecting male subjects. 摘要外胚层发育不全为一遗传疾病，最常见的是性联缺汗性类型。
- Abstract ABSTRACT:Objective To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia. 摘要 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。
- Conclusion The c.1 045A>G mutation of ED1 gene may be the pathologic cause of this Chinese family with X-linked hypohidrotic ectodermal dysplasia. 结论 错义突变c.;1 045A>G是导致该X性连锁少汗性外胚叶发育不良家系临床表型的主要原因。
