Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis

被引:0
|
作者
Chen Cheng
Xiuxiu Li
Sheng Zhao
Qian Feng
Xiang Ren
Xinlin Chen
机构
[1] Huazhong University of Science and Technology,Department of Ultrasonography, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College
[2] Huazhong University of Science and Technology,College of Life Science and Technology
来源
关键词
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 35 条
  • [21] Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type
    Badiner, N.
    Taylor, S. P.
    Forlenza, K.
    Lachman, R. S.
    Bamshad, M.
    Nickerson, D.
    Cohn, D. H.
    Krakow, D.
    CLINICAL GENETICS, 2017, 92 (02) : 158 - 165
  • [22] RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report
    Marshall, Aren K.
    MacDonald, Stella
    Liang, Yijing
    Couse, Madeline M.
    Boycott, Kym D.
    Richer, Julie
    Kernohan, Kristin
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2023, 11 (10):
  • [23] SHORT RIB-POLYDACTYLY (SRP) SYNDROME TYPE-I (SALDINO-NOONAN) IN 2 SISTERS
    RUPPRECHT, E
    GURSKI, A
    HELVETICA PAEDIATRICA ACTA, 1982, 37 (02) : 161 - 169
  • [24] Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly)
    Chen, Wenqi
    Li, Yazhou
    Zhang, Jing
    Yuan, Yufan
    Sun, Donglan
    Yuan, Jiayu
    Yang, Kai
    Liang, Ying
    Guo, Qing
    FRONTIERS IN GENETICS, 2023, 14
  • [25] Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
    Taylor, S. Paige
    Dantas, Tiago J.
    Duran, Ivan
    Wu, Sulin
    Lachman, Ralph S.
    Nelson, Stanley F.
    Cohn, Daniel H.
    Vallee, Richard B.
    Krakow, Deborah
    NATURE COMMUNICATIONS, 2015, 6
  • [26] Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
    S. Paige Taylor
    Tiago J. Dantas
    Ivan Duran
    Sulin Wu
    Ralph S. Lachman
    Stanley F. Nelson
    Daniel H. Cohn
    Richard B. Vallee
    Deborah Krakow
    Nature Communications, 6
  • [27] Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
    Stembalska, Agnieszka
    Rydzanicz, Malgorzata
    Klaniewska, Magdalena
    Dudarewicz, Lech
    Pollak, Agnieszka
    Biela, Mateusz
    Stawinski, Piotr
    Ploski, Rafal
    Smigiel, Robert
    GENES, 2022, 13 (08)
  • [28] Sonographic detection of situs inversus, ventricular septal defect, and short-rib polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus not known to be at risk
    Chen, CP
    Chang, TY
    Tzen, CY
    Lin, CJ
    Wang, W
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2002, 19 (06) : 629 - 631
  • [29] Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes
    Takamine, Y
    Krejci, P
    Mekikian, PB
    Wilcox, WR
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 130A (01) : 96 - 97
  • [30] Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy
    Thakur, Seema
    Gupta, Rachna
    Bansal, Deepak
    Singh, Chanchal
    Agarwal, Divya
    Saxena, Kamal Kant
    CLINICAL GENETICS, 2021, 99 (06) : 853 - 854