Report of a case with multiple joint dislocation syndrome associated with a homozygous pathogenic mutation in the EXOC6B gene

被引：0
|
作者：
Seyedhassani, S. [1 ,2 ]
Ravesh, Z. [2 ]
Ebrahimi, M. [1 ]
Najafi, L. [3 ]
机构：
[1] Dr Seyedhassani Med Genet Ctr, Yazd, Iran
[2] Shahid Beheshti Med Sci Univ, Genom Res Ctr, Tehran, Iran
[3] Kharazmi Univ, Tehran, Iran
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
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：
P11.054B
引用
收藏
页码：366 / 366
页数：1
相关论文
共 50 条
  • [1] A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
    Katta Mohan Girisha
    Fanny Kortüm
    Hitesh Shah
    Malik Alawi
    Ashwin Dalal
    Gandham SriLakshmi Bhavani
    Kerstin Kutsche
    European Journal of Human Genetics, 2016, 24 : 1206 - 1210
  • [2] A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
    Girisha, Katta Mohan
    Kortuem, Fanny
    Shah, Hitesh
    Alawi, Malik
    Dalal, Ashwin
    Bhavani, Gandham SriLakshmi
    Kutsche, Kerstin
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (08) : 1206 - 1210
  • [3] Vici syndrome with pathogenic homozygous EPG5 gene mutation A case report and literature review
    Abidi, Kamal T.
    Kamal, Naglaa M.
    Bakkar, Ayman A.
    Almarri, Saad
    Abdullah, Rehab
    Alsufyani, Maram
    Alharbi, Arwa
    MEDICINE, 2020, 99 (43) : E22302
  • [4] Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro
    Guleria, Vishal Singh
    Quadri, Neha
    Prasad, Keshava
    Das, Ranajit
    Upadhyai, Priyanka
    MOLECULAR BIOLOGY REPORTS, 2024, 51 (01)
  • [5] Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report
    Hacihamdioglu, Bulent
    Bas, Elif Gulsah
    Delil, Kenan
    JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2021, 13 (01) : 100 - 103
  • [6] Another case of Galloway-Mowat Syndrome associated with a homozygous mutation of the OSGEP gene
    Bulk, S.
    d'Otreppe, S.
    Tebache, M.
    Lombet, J.
    Caberg, J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 358 - 359
  • [7] A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report
    Altincik, Ayca
    Schlingmann, Karl Peter
    Tosun, Mahya Sultan
    JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2016, 8 (01) : 101 - 104
  • [8] Biallelic loss of function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
    Simsek-Kiper, Pelin
    Jacob, Prince
    Upadhyai, Priyanka
    Taskiran, Ekim
    Guleria, Vishal Singh
    Karaosmanoglu, Beren
    Imren, Gozde
    Gocmen, Rahsan
    Bhavani, Gandham SriLakshmi
    Kausthubham, Neethukrishna
    Shah, Hitesh
    Utine, Gulen Eda
    Boduroglu, Koray
    Girisha, Katta
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 394 - 395
  • [9] Posterior Sternoclavicular Joint Dislocation With Associated Thoracic Outlet Syndrome: A Case Report
    McAleese, T.
    Curtin, M.
    Collins, D.
    IRISH JOURNAL OF MEDICAL SCIENCE, 2018, 187 : S59 - S60
  • [10] A Case Report of Wolfram Syndrome due to a Novel Homozygous Mutation in WFS1 Gene
    Tayfun, Meltem
    Arasli, Aslihan
    Elmaogullari, Selin
    Ucakturk, Ahmet
    Demirel, Fatma
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 231 - 232
12345