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A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772CT (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic Russia)

机译：西伯利亚东部雅库特患者的MITF基因中无意义的c.772C T变异（c.772C T（p.Arg259 *））导致的Waardenburg综合征罕见病例其单侧听力丧失

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期刊名称 International Journal of Circumpolar Health
作者
Nikolay A. Barashkov; Georgii P. Romanov; Uigulaana P. Borisova; Aisen V. Solovyev; Vera G. Pshennikova; Fedor M. Teryutin; Alexander A. Bondar; Igor V. Morozov; Elza K. Khusnutdinova; Olga L. Posukh; Tatiana E. Burtseva; Jon Øyvind Odland; Sardana A. Fedorova;
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年(卷),期 2019(78),1
年度 2019
页码 1630219
总页数 4
原文格式 PDF
正文语种
中图分类公共卫生工程;
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外文文献

1. A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772CT (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia) [J] . Nikolay A. Barashkov, Georgii P. Romanov, Uigulaana P. Borisova, International Journal of Circumpolar Health . 2019,第1期

机译：西伯利亚东部雅库特患者的MITF基因中无意义的c.772C> T变异（c.772C> T（p.Arg259 *））导致的Waardenburg综合征单侧听力下降的罕见病例
2. A novel pathogenic variant c.975GA (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2) [J] . Nikolay A. Barashkov, Leonid A. Klarov, Fedor M. Teryutin, International journal of pediatric otorhinolaryngology . 2018,第期

机译：一种新的致病变异C.975G＆GT; yakut家族（俄罗斯东部Siberia，俄罗斯东部）的POU3F4基因中的A（p.trp325 *），X-Linked耳聋-2（DFNX2）
3. Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome [J] . Melzer Jonathan M., Eliason Michael, Conley George S. The Laryngoscope: A Medical Journal for Clinical and Research Contributions in Otolaryngology, Head and Neck Medicine and Surgery, Facial Plastic and Reconstructive Surgery .. . 2016,第4期

机译：先天性骨畸形：Waardenburg综合征患者罕见的传导性听力损失
4. Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic) [O] . Nikolay A. Barashkov, Vera G. Pshennikova, Olga L. Posukh, -1

机译：在俄罗斯（萨哈共和国）北极地区居住的一大批听力障碍患者中GJB2基因致病变异的频谱和频率
5. The case of multiple osteohondromas in Yakut family (Eastern Siberia, Russia) caused by rare mutation in the EXT2 gene [O] . А.Е. Яковлева, Д.А. Петухова, П.И. Голикова, 2019

机译：在ext2基因中罕见突变引起的yakut家族（西伯利亚东西伯利亚，俄罗斯）中多重骨孔瘤的病例

A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772CT (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic Russia)

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