A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene.

Sendi Naderi A; Ludecke HJ; Unger S; Kern JS; Wolff G; Bruckner Tuderman L; Nashan D

首页> 外文期刊>Journal of the European Academy of Dermatology and Venereology: JEADV >A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene.

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A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene.

机译：家族病例的III型鼻－鼻－趾甲综合征，在TRPS1基因的外显子6中有一个新的错义突变。

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A 17.5-year-old man with normal intelligence presented with non-scarring diffuse alopecia and fronto-temporo-parietal accentua-

机译：一名智力正常的17.5岁男性，表现为无疤痕弥漫性脱发和额颞顶突性口音。

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《Journal of the European Academy of Dermatology and Venereology: JEADV》 |2010年第5期|共3页
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Sendi Naderi A; Ludecke HJ; Unger S; Kern JS; Wolff G; Bruckner Tuderman L; Nashan D;
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中图分类皮肤病学与性病学;
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1. A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene. [J] . Sendi Naderi A, Ludecke HJ, Unger S, Journal of the European Academy of Dermatology and Venereology: JEADV . 2010,第5期

机译：家族病例的III型鼻－鼻－趾甲综合征，在TRPS1基因的外显子6中有一个新的错义突变。
2. A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1 [J] . Torai Ryotaro, Makino Teruhiko, Mizawa Megumi, European journal of dermatology: EJD . 2018,第2期

机译：患者TRPS1基因的外显子3中的小型畸形突变，具有轻度表型综合征1型轻度表型
3. A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report [J] . W. Smaili, S. Chafai Elalaoui, S. Meier, BMC Medical Genetics . 2017,第1期

机译：摩洛哥家族的III型鼻-鼻-指骨综合征的新型TRPS1突变：病例报告
4. Inactivating Mutation screening of Exon 6 and Exon 10E of FSHR gene in women with Polycystic Ovarian Syndrome in Vellore population [C] . NishuSekar, MadhuraSapre, Vaikhari Kale International Conference on Science, Engineering the Technology . 2018

机译：在瓦雷群中具有多囊卵巢综合征的妇女的外显子6和FSON 10E的突变筛选突变筛选
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
6. A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report [O] . W. Smaili, S. Chafai Elalaoui, S. Meier, 2017

机译：摩洛哥家族性III型鼻－鼻－指骨综合征的新型TRPS1突变：病例报告
7. Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. [O] . Ameis, D, Kobayashi, J, Davis, R C, 1991

机译：家族性乳糜微粒血症（I型高脂蛋白血症）是由于脂蛋白脂肪酶基因中的一个单义错突变引起的。

A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene.

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