首页> 外文OA文献 >A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome

【2h】

A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome

机译：具有Kallmann综合征和Waardenburg综合征的患者中的一种新型SOX10废敏突变

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
Tetsuji Wakabayashi; Akihito Takei; Nobukazu Okada; Miki Shinohara; Manabu Takahashi; Shuichi Nagashima; Kenta Okada; Ken Ebihara; Shun Ishibashi;
展开▼
作者单位

展开▼
年度 2021
总页数
原文格式 PDF
正文语种
中图分类

相似文献

外文文献
中文文献
专利

1. De novo SOX10 Nonsense Mutation in a Patient with Kallmann Syndrome, Deafness, Iris Hypopigmentation, and Hyperthyroidism [J] . Wang Fang, Zhao Shaoli, Xie Yanhong, Annals of Clinical and Laboratory Science: Official Journal of the Association of Clinical Scientists . 2018,第2期

机译：de novo sox10患者患者患有Kallmann综合征，耳聋，虹膜低血分症和甲状腺功能亢进症的无意义突变
2. De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss [J] . Kirsi Vaaralahti, Johanna Tommiska, Vallo Tillmann, Pediatric Research . 2014,第1期

机译：卡尔曼综合征和听力损失的患者的 De Novo SOX10 无意义突变
3. A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10 [J] . Noriomi Suzuki, Hideki Mutai, Fuyuki Miya, BMC Pediatrics . 2018,第1期

机译：Waardenburg综合征可逆性全身性癫痫发作的报告，该患者与SOX10倒数第二个外显子中的新的无意义突变有关
4. Surgery Outcome en Patients with Waardenburg Syndrome Facial Features [C] . Chavanne Juan Martin, Steinberg Diego M, Houssay Alfredo and Lovera Daniel A International Society of Craniofacial Surgery International Congress . 2009

机译：术后患者患有Waardenburg综合征面部特征的患者
5. Nonsense-Mediated Decay in Waardenburg Syndrome - A Review of Literature. [D] . Shelby, Myeshia V. 2017

机译：瓦登堡综合征中的胡说八道衰变-文献综述。
6. Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature [O] . Kan Chen, Haoyu Wang, Yaxin Lai 2020

机译：Kallmann综合征由于Sox10中的杂合突变与Waardenburg综合征II型共存：案例报告和文学审查
7. Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature [O] . Kan Chen, Haoyu Wang, Yaxin Lai 2021

机译：Kallmann综合征由于Sox10中的杂合突变与Waardenburg综合征II型共存：案例报告和文学审查

A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome

著录项

引文网络

相似文献

相关主题

期刊订阅