Literature DB >> 29168219

Waardenburg syndrome type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene.

Ami Hemmi1, Ken Okamura1, Ryushi Tazawa2, Yuko Abe1, Masahiro Hayashi1, Shuji Izumi3, Jun Tohyama2,4, Yutaka Shimomura5, Yutaka Hozumi1, Tamio Suzuki1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 29168219     DOI： 10.1111/1346-8138.14151

Source DB:  PubMed          Journal:  J Dermatol        ISSN： 0385-2407            Impact factor:   4.005


× No keyword cloud information.
  3 in total

1.  Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10.

Authors:  Xiaoyu Yu; Yun Lin; Hao Wu
Journal:  Neural Plast       Date:  2020-08-28       Impact factor: 3.599

2.  New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.

Authors:  Wu Li; Lingyun Mei; Hongsheng Chen; Xinzhang Cai; Yalan Liu; Meichao Men; Xue Zhong Liu; Denise Yan; Jie Ling; Yong Feng
Journal:  Neural Plast       Date:  2019-02-27       Impact factor: 3.599

3.  Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

Authors:  Maan Abdullah Albarry; Muhammad Latif; Ahdab Qasem Alreheli; Mohammed A Awadh; Ahmad M Almatrafi; Alia M Albalawi; Sulman Basit
Journal:  PLoS One       Date:  2021-02-11       Impact factor: 3.240
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.