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非综合征型常染色体显性遗传性耳聋一家系19例 被引量:1

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摘要 先证者(V13)男,24岁。3年前无明显诱因出现进行性听力下降,影响正常交流,来我院就诊。患者无耳鸣、眩晕等症状,否认近亲结婚史,但曾用过氨基糖甙类抗生素。查体:双侧耳廓正常大小,外耳道未见畸形,鼓膜完整,无穿孔和凹陷。体格检查未见畸形等异常。头颅计算机X射线断层扫描耳蜗未见异常。纯音测听显示双耳重度耳聋。
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2012年第1期111-111,共1页 Chinese Journal of Medical Genetics
基金 南京医科大学科技发展基金面上项目(9NJMUM139) 江苏省卫生厅项目(苏卫科教Z201011)
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同被引文献12

  • 1Hilgert N,Smith R J,Van Camp G. Forty-six genes causing nonsyn-dromic hearing impairment:which ones should be analyzed in DNA diagnostics[J].{H}Mutation Research,2009,(2-3):189-196.
  • 2Cheng J,Zhu Y,He S. Functional mutation of SMAC/DIABLO,encoding a mitochondrial proapoptotic protein,causes human pro-gressive hearing loss DFNA64[J].{H}American Journal of Hunan Genetics,2011,(01):56-66.
  • 3Ruel J,Emery S,Nouvian R. Impairment of SLC17A8 encod-ing vesicular glutamate transporter-3,VGLUT3,underlies nonsyn-dromic deafness DFNA25 and inner hair cell dysfunction in null mice[J].{H}American Journal of Hunan Genetics,2008,(02):278-292.
  • 4Mencia A,Modamio-Hoybjor S,Redshaw N. Mutations in the seed region of human miR-96 are responsible for nonsyndromic pro-gressive hearing loss[J].{H}Nature genetics,2009,(05):609-613.
  • 5Walsh T,Pierce S B,Lenz D R. Genomic duplication and over-expression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51[J].{H}American Journal of Hunan Genetics,2010,(01):101-109.
  • 6Walsh T,Shahin H,Elkan-Miller T. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity pro-tein GPSM2 as the cause of nonsyndromic hearing loss DFNB82[J].{H}American Journal of Hunan Genetics,2010,(01):90-94.
  • 7Sagong B,Park R,Kim Y H. Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant non-syndromic hearing loss[J].{H}Annals of Clinical and Laboratory Science,2010,(04):380-385.
  • 8鲁雅洁,程洪波,邢光前,曹新,戴大春,陈智斌,冀强,魏钦俊,卜行宽.非综合征型耳聋GJB2基因和mtDNA 12SrRNA A1555G位点的突变分析[J].南京医科大学学报(自然科学版),2008,28(7):855-860. 被引量:13
  • 9金占国,程静,卢宇,李建忠,孙艺,袁慧军,韩东一.一非综合征型耳聋家系听力学和遗传学特征分析[J].临床耳鼻咽喉头颈外科杂志,2011,25(4):158-161. 被引量:2
  • 10聂宇航,张桂茹,陈焕玲,金慧,张宝林,尹丽娥.吉林省常染色体显性遗传非综合征型耳聋家系的遗传学特征分析[J].中国实验诊断学,2011,15(3):461-464. 被引量:3

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