Prenatal exome sequencing identifies compound heterozygous GLB1-mutations in a fetus with ultrasound abnormalities

被引:0
|
作者
Beck-Woedl, S. [1 ]
Grundmann-Hauser, K. [1 ]
Buchert-Lo, R. [1 ]
Dufke, A. [1 ]
Sturm, M. [1 ]
Riess, O. [1 ]
Hoopmann, M. [1 ]
Haack, T. [1 ]
Stampfer, M. [1 ]
机构
[1] Dept Gynecol, Tubingen, Germany
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P06.15C
引用
收藏
页码:173 / 173
页数:1
相关论文
共 50 条
  • [1] Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus
    Qiuling Zhao
    Xiaoduo Li
    Li Liu
    Xu Zhang
    Xin Pan
    Hong Yao
    Yongyi Ma
    Bo Tan
    BMC Medical Genomics, 15
  • [2] Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus
    Zhao, Qiuling
    Li, Xiaoduo
    Liu, Li
    Zhang, Xu
    Pan, Xin
    Yao, Hong
    Ma, Yongyi
    Tan, Bo
    BMC MEDICAL GENOMICS, 2022, 15 (01)
  • [3] Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII
    Huang, Yanru
    Mei, Libin
    Lv, Weigang
    Li, Haoxian
    Zhang, Rui
    Pan, Qian
    Tan, Hu
    Guo, Jing
    Luo, Xiaomei
    Chen, Chen
    Liang, Desheng
    Wu, Lingqian
    CLINICA CHIMICA ACTA, 2017, 464 : 170 - 175
  • [4] Whole-exome sequencing identifies compound heterozygous LHX4 mutations in a fetus with early-onset growth restriction
    Lu, Yue-Cheng
    Huang, Lv-Ying
    Yan, Jin-Mei
    Zhang, Yi
    Li, Dong-Zhi
    EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 2017, 211 : 225 - 227
  • [5] Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy
    Mei, Libin
    Huang, Yanru
    Chen, Jing
    He, XueMei
    Lin, Shaobin
    Liao, Luying
    Wang, XiaoYan
    Huang, XianJing
    Sha, Yanwei
    Ji, Zhiyong
    Li, Ping
    CLINICA CHIMICA ACTA, 2019, 493 : 87 - 91
  • [6] Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease
    Zhang Da
    Lu Lin
    Yang Hong-bo
    Li Mei
    Sun Hao
    Zeng Zheng-pei
    Li Xin-ping
    Xia Wei-bo
    Xing Xiao-ping
    CHINESE MEDICAL JOURNAL, 2012, 125 (14) : 2482 - 2486
  • [7] Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa
    Chacon-Camacho, Oscar F.
    Jitsldi, Serguei
    Buentello-Volante, Beatriz
    Quevedo-Martinez, Jonathan
    Zenteno, Juan C.
    GENE, 2013, 528 (02) : 178 - 182
  • [8] Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa
    Wang, Yun
    Guo, Liheng
    Cai, Su-Ping
    Dai, Meizhi
    Yang, Qiaona
    Yu, Wenhan
    Yan, Naihong
    Zhou, Xiaomin
    Fu, Jin
    Guo, Xinwu
    Han, Pengfei
    Wang, Jun
    Liu, Xuyang
    PLOS ONE, 2012, 7 (05):
  • [9] Whole-Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria
    Murdock, David R.
    Clark, Gary D.
    Bainbridge, Matthew N.
    Newsham, Irene
    Wu, Yuan-Qing
    Muzny, Donna M.
    Cheung, Sau Wai
    Gibbs, Richard A.
    Ramocki, Melissa B.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (09) : 2071 - 2077
  • [10] Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy
    Li, Kun
    Jin, Runming
    Wu, Xiaoyan
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (01)