首页> 外文OA文献 >A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features

【2h】

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features

机译：一种新的致病畸发Adamts17变体，损害分泌物导致Weill-Markesani综合征，具有可变的疑难垂的手特征

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

著录项
引文网络
相似文献
相关主题

著录项

作者
Daniel R. Evans; Jane S. Green; Somayyeh Fahiminiya; Jacek Majewski; Bridget A. Fernandez; Matthew A. Deardorff; Gordon J. Johnson; James H. Whelan; Dirk Hubmacher; Suneel S. Apte; Michael O. Woods;
展开▼
作者单位

展开▼
年度 2020
总页数
原文格式 PDF
正文语种
中图分类

相似文献

外文文献
专利

1. A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family [J] . Yi Haoan, Zha Xu, Zhu Yuechun, Journal of human genetics . 2019,第7期

机译：Adamts17中的一种新型无意义突变引起了来自中国家庭的常染色体隐性遗产Weill-Marchesani综合征
2. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation [J] . Balak Chris, Benard Marianne, Schaefer Elise, The American Journal of Human Genetics . 2019,第3期

机译：RNA Helicase DDX6中的罕见de novo畸形变种导致智力残疾和疑似特征，导致p-body缺陷和rna失效
3. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features [J] . Mari J. Tokita, Chun-An Chen, David Chitayat, The American Journal of Human Genetics . 2018,第1期

机译：De Novo Missense在TRAF7中的变种导致发育延迟，先天性异常和疑难解定特征
4. Impairment of hand sensorimotor function by simulated carpal tunnel syndrome [C] . Zong-Ming Li, Ashish Nimbarte China-Overseas Joint Workshop on Biomechanics;Sino-American Workshop on Biomedical Engineering; 20070704-08;20070704-08; Guangzhou(CN);Guangzhou(CN) . 2007

机译：模拟腕管综合症对手感觉运动功能的损害
5. Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C [D] . Yamamoto Koji, Matsushita Tadashi, Sugiura Isamu, 1992

机译：纯合蛋白C缺乏症：鉴定导致突变蛋白C分泌受损的新型错义突变
6. A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features [O] . Daniel R. Evans, Jane S. Green, Somayyeh Fahiminiya, -1

机译：一种新的致病性错义ADAMTS17变体可损害分泌导致Weill-Marchesani综合征手部功能各不相同
7. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features [O] . Diane D. Shao, Rachel Straussberg, Hind Ahmed, 2021

机译：复发性纯合的EMC10帧射频变体与具有变量癫痫发作和疑难解定特征的发育延迟综合征有关

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features

著录项

引文网络

相似文献

相关主题

期刊订阅