史密斯-金斯莫综合征(Smith-Kingsmore syndrome,SKS)是一种罕见的常染色体显性遗传病,以巨颅、(半)巨脑畸形、智力障碍、癫痫发作和额叶隆起、鼻梁低、眼距宽、小下颌等面部异常为特征,最先由Smith等报道,是由于哺乳动物雷帕霉素(mTOR)基因变异引起。部分SKS患儿存在注意缺陷多动障碍或自闭症谱系障碍行为、社交能力受损...
史密斯-金斯莫尔综合征(SKS)的英文名字是Smith-Kingsmore syndrome(SKS)。基因解码表明:佳学基因通过基因解码发现,史密斯-金斯莫尔综合征(SKS)是由基因突变引起的。具体来说,SKS是由于基因SMAD4的突变而导致的。SMAD4基因编码一种蛋白质,该蛋白质在信号转导途径中起着重要的调控作用。突变导致SMAD4蛋白质功能异常,...
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阻塞性睡眠呼吸暂停低通气综合征(obstructive sleep apnea hypopnea syndrome, OSAHS)是指睡眠时上气道塌陷阻塞引起的呼吸暂停和低通气,通常伴有打鼾、睡眠结构紊乱、频繁发生血氧饱和度下降、白天嗜睡、注意力不集中等病症,并可导致高血压、冠心病、糖尿病等多器官多系统损害,从而使机体发生一系列病理生理改变的临床综合征。
For example, a G to A missense mutation in exon 5 of the PMM2 gene, which is associated with carbohydrate-deficient glycoprotein syndrome type Ia, causes a deletion of exon 5 in the transcripts of the gene (15). In these exon-skipping mutations, the nucleotide substitutions disrupt putative...
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Define cusks. cusks synonyms, cusks pronunciation, cusks translation, English dictionary definition of cusks. n. pl. cusk or cusks 1. A food fish of North Atlantic coastal waters that is related to the cod. Also called torsk , tusk 2. 2. See burbot. Amer
这类肥胖症患儿继发于各种内分泌代谢及遗传性疾病,他们不仅体脂分布特殊,且常有肢体或智能异常。如伴有肥胖的遗传性疾病:劳蒙毕综合征(Laurence-Moon-Biedl syndrome)、贝韦综合征(Prader-Willi syndrome);伴肥胖的内分泌疾病:肥胖性生殖无能综合征、下丘脑综合征等。
In the earliest stages of the syndrome thrombolysis holds s... SH Taylor - 《Cardiology》 被引量: 5发表: 1988年 Clinical Utility of Electrocardiographic ST-Segment Area for Predicting Unsatisfactory Outcomes Following Thrombolytic Therapy Background The bedside surface 12-lead electrocardiogram is a ...
Scary Knife Syndrome 1 Siersema Komponenten Service 1 Sach Ka Saamna 1 Saks, Inc. NextSuggest to this list Related Acronyms and Abbreviations Explore abbreviations related to SKS, organized by common usage and topics: Abbr.Meaning LAN Local Area Network ...