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：
BMC Medical Genomics | / 15卷
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
  • [31] Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III
    Buchh, Muqsit
    Gillespie, Patrick J.
    Treat, Kayla
    Abreu, Marco A.
    Schwantes-An, Tae-Hwi Linus
    Helm, Benjamin M.
    Fang, Fang
    Xuei, Xiaoling
    Mantcheva, Lili
    Suhrie, Kristen R.
    Graham, Brett H.
    Conboy, Erin
    Vetrini, Francesco
    COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2022, 8 (07):
  • [32] Short rib-polydactyly syndrome type II (Majewski): Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene
    Chen, Chih-Ping
    Chang, Tung-Yao
    Chen, Chen-Yu
    Wang, Tao-Yeuan
    Tsai, Fuu-Jen
    Wu, Pei-Chen
    Chern, Schu-Rern
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2012, 51 (01): : 100 - 105
  • [33] Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach
    Fontana, Paolo
    Agolini, Emanuele
    Cocciadiferro, Dario
    Mazzarelli, Laura Letizia
    Di Meglio, Aniello
    Novelli, Antonio
    Scarano, Gioacchino
    Lombardi, Cinzia
    Ciavarella, Maria
    Lonardo, Fortunato
    JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE, 2023, 36 (01):
  • [34] Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
    Schmidts, Miriam
    Arts, Heleen H.
    Bongers, Ernie M. H. F.
    Yap, Zhimin
    Oud, Machteld M.
    Antony, Dinu
    Duijkers, Lonneke
    Emes, Richard D.
    Stalker, Jim
    Yntema, Jan-Bart L.
    Plagnol, Vincent
    Hoischen, Alexander
    Gilissen, Christian
    Forsythe, Elisabeth
    Lausch, Ekkehart
    Veltman, Joris A.
    Roeleveld, Nel
    Superti-Furga, Andrea
    Kutkowska-Kazmierczak, Anna
    Kamsteeg, Erik-Jan
    Elcioglu, Nursel
    van Maarle, Merel C.
    Graul-Neumann, Luitgard M.
    Devriendt, Koenraad
    Smithson, Sarah F.
    Wellesley, Diana
    Verbeek, Nienke E.
    Hennekam, Raoul C. M.
    Kayserili, Hulya
    Scambler, Peter J.
    Beales, Philip L.
    Knoers, Nine V. A. M.
    Roepman, Ronald
    Mitchison, Hannah M.
    JOURNAL OF MEDICAL GENETICS, 2013, 50 (05) : 309 - 323
  • [35] Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene
    Chen, Chih-Ping
    Chern, Schu-Rern
    Chang, Tung-Yao
    Su, Yi-Ning
    Chen, Yi-Yung
    Su, Jun-Wei
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2012, 51 (02): : 266 - 270
1234