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。
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。
Prognostic factors of primitive neuroectodermal tumor Research progress in the genes and proteins of hypohidrosis ectodermal dysplasia 原始神经外胚层肿瘤化疗患者预后的研究少汗型外胚层发育不良症相关基因及其蛋白
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
Clinical and genetic features of ectrodactyly, ectodermal dysplasia and clefting syndrome congenital absence of fingers and/ or toes. 先天性缺指(趾)-外胚叶发育不全-唇/腭裂综合征的临床和遗传学特点先天缺少手指或脚趾。
Oral rehabilitation nursing for patients with congenital ectodermal dysplasia 先天性外胚叶发育不全的口腔修复护理
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。
Comparison of Sevoflurane and Ketamine used as Basal Anesthesia in Infants 'Primary Repair of Cleft Lip or/ and Palate Clinical and genetic features of ectrodactyly, ectodermal dysplasia and clefting syndrome 七氟醚与氯胺酮做基础麻醉在婴幼儿先天性唇腭裂手术中的应用比较先天性缺指(趾)-外胚叶发育不全-唇/腭裂综合征的临床和遗传学特点
Gene Diagnosis in a Family of Hidrotic Ectodermal Dysplasia 基因诊断有汗性外胚叶发育不良一家系
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。
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。
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。
Objective To report the first case of ectodermal dysplasia/ skin fragility syndrome in China. 目的报道我国首例外胚层发育不良/皮肤脆性综合征。
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 showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes 外胚层发育不良症临床症状表现为AEC、Rapp-Hodgkin和CHAND综合征
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
A Pedigree Study on Congenital Hidrotic Ectodermal Dysplasia 一个先天性有汗性外胚层发育不良家系的调查研究
Congenital hidrotic ectodermal dysplasia: clinical and genetic features 有汗性外胚层发育不良临床及遗传特点分析
Ocular symptoms and signs in patients with ectodermal dysplasia syndromes 外胚层发育不良综合征患者的眼部症状和表现
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
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;
Gene Mutation Analysis in Chinese Patients with Ectodermal Dysplasia 外胚层发育不良的基因突变研究
Histopathological and ultrastructural study of ectodermal dysplasia/ skin fragility syndrome 外胚层发育异常/皮肤脆性综合征的组织病理学和超微结构研究
Objective To study clinical and genetic features of hidrotic ectodermal dysplasia ( HED) in Chinese. 目的了解中国人有汗性外胚层发育不良(HED)的临床表现和遗传特点。
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。
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
Functional reconstruction of dentition of ectodermal dysplasia using implant dentures 种植义齿在外胚叶发育异常患者牙列重建中的应用