唇窝综合征 (van der Woude syndrome): irf6雌激素抗性 (Estrogen resistance): esr1 次黄苷三磷酸酶缺陷 (Inosine triphosphatas…www.eiaab.cn|基于4个网页 2. 范德沃德氏综合征 ...,为上皮发育角质细胞增殖-分化开关的一个关键决定因子。该因子基因突变可导致范德沃德氏综合征(van der Woude syndro…www.neo...
唇裂和(或)腭裂是最常见的出生缺陷之一,根据是否伴有身体其他先天畸形,唇腭裂又分为孤立型或综合征型。目前已知综合征型唇腭裂超过300个,其中范德伍综合征( van der Woude syndrome, VWS)是最常见的唇腭裂综合征之一,占唇腭裂发病总数的2%。它的主要临床表现有下唇部凹陷或瘘管、唇裂和(或)腭裂、悬雍垂裂、牙齿发...
1) Van der Woude Syndrome VanderWoude综合征 2) VA VA 1. The influences of methyl acetate and ethyl acetate content inVAto the fiber degree of yellowness; VA中乙酸甲酯和乙酸乙酯含量对纤维黄度的影响 2. Effects of cool temperature and differentVAlevels on anti-oxidative ability and incretion ...
唇窝、唇裂与腭裂综合征(Vander Woude Syndrome) 唇窝是较少见的先天畸形,唇窝单独或与唇腭裂联合表现者称Van der Woude综合征。本文报道中国6个系谱中8例综合征患者;并提出在唇腭裂患者中的临床发病率为0.43%。本征... 高柠,陈大鸣,赵弘 - 《中华...
Van der Woude综合征1. Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome; Van der Woude综合征家系IRF6基因突变分析2. IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province; 1个河南van Der Woude综合征家系IRF6基因的突变...
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Van der Woude syndrome is a rare autosomal dominant disorder characterized by a cleft lip and cleft palate with congenital lip pits. The variable manifestations include lip pits, absent teeth and isolated cleft lip and cleft palate of varying degrees of severity and other associated anomalies though...
【正文语种】中文 【中图分类】Q786 Van der Woude综合征(Van der Woude syndrome,VWS,OMIM 119300)是最常见的唇腭裂综合征,约占总唇腭裂的2%,发病率为1～3/30 000[1]。VWS临床表现为唇裂和/或腭裂,下唇瘘,智力正常,为常染色显性遗传。目前,已经确切鉴定出VWS有2个致病基因,分别为干扰素调节因子6(interferon...
<bold>Indroduction</bold>: Van der Woude syndrome is a rare hereditary disease caracterised by fistulas of the lower lip with or without associated oro-facial clefts and hypodontia. <bold>Observation</bold>: We report a minor form of Va
Van der Woude in 1954. The lip pits syndrome is inherited as an autosomal dominant trait with high penetrance (80%), but its clinical expression is variable. Sometimes there may be microforms with only conical elevation and/or surface openings without any deeper sinuses at the typical sites ...