Bart-Pumphrey 综合征(OMIM149200)是一种罕见的常染色体显性遗传综合征,又称指关节垫-白甲症-感音神经性耳聋。1967 年,Bart 和 Pumphrey 首次对此进行了报道。目前该综合征的报道很少。 本病发生于空隙连接 β2 基因(GJB2)编码连接蛋白 26 的致病变异的患...
佳学基因Bart-Pumphrey syndrome基因解码、基因检测大数据分析 Bart-Pumphrey综合征是一种由佳学基因检测进行检测与分析疾病,确切的发病率尚不清楚。只有少数患病家庭和个人已经确定。 Bart-Pumphrey syndrome致病鉴定基因解码 Bart-Pumphrey综合征是GJB2基因突变引起的。这个基因指导产生间隙连接β2蛋白,通常又称为连接蛋白...
Cx26紊乱表型谱的扩展:Bart-Pumphrey综合证的发生:由于在GJB2中基因的新错义突变导致 Bart-PumphreyCx26GJB2综合证错义突变基因突变白甲病突变基因连接蛋白听力丧失Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, ...
巴特-庞弗莱综合征的英文名字是Bart-Pumphrey syndrome。基因解码表明:是的,巴特-庞弗莱综合征是由基因突变引起的。巴特-庞弗莱综合征是一种罕见的遗传性疾病,主要由于基因突变导致的。这种突变通常发生在BRCA1和BRCA2基因中,这两个基因在维持细胞的DNA修复和基因组稳定性方面起着重要作用。BRCA1和BRCA2基因突变会...
Bart-Pumphrey syndromeWe report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads. These findings are similar to those previously described in the Bart-Pumphrey syndrome, a rare autosomal dominant ...
网络释义 1. 综合征 Bart-Pumphrey综合征(Bart-Pumphrey syndrome): gjb2Beare-Stevenson 皮肤旋纹综合征 (Beare-Stevenson cutis gyrata synd… www.eiaab.cn|基于 1 个网页
Bart-Pumphrey syndrome - an autosomal dominant syndrome consisting of knuckle pads, leukonychia, and mixed sensorineural and conductive deafness. Synonym(s): knuckle pads, leukonychia, and sensorineural deafness Medical Eponyms © Farlex 2012Want...
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Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads and palmoplantar keratoderma. Two mutations in the extracellular domain of GBJ2 are resposible for this syndrome. To date, less than 10 case reports or clinical series about BPS...
G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. Am J Med Genet A. 2005; 136:282-284. [PubMed: 15952212]Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE. G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-...