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
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
  • [41] A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant
    Mandato, Claudia
    Siano, Maria Anna
    Nazzaro, Lucia
    Gelzo, Monica
    Francalanci, Paola
    Rizzo, Francesca
    D'Agostino, Ylenia
    Morleo, Manuela
    Brillante, Simona
    Weisz, Alessandro
    Franco, Brunella
    Vajro, Pietro
    ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
  • [42] A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant
    Claudia Mandato
    Maria Anna Siano
    Lucia Nazzaro
    Monica Gelzo
    Paola Francalanci
    Francesca Rizzo
    Ylenia D’Agostino
    Manuela Morleo
    Simona Brillante
    Alessandro Weisz
    Brunella Franco
    Pietro Vajro
    Orphanet Journal of Rare Diseases, 16
  • [43] Posteriorly displaced salter halter fracture-dislocation at the sternoclavicular joint with associated thoracic outlet syndrome: A case report
    McAleese, Timothy
    Curtin, Mark
    Collins, Denis
    INTERNATIONAL JOURNAL OF SURGERY CASE REPORTS, 2020, 72 : 245 - 250
  • [44] A Novel Mutation in the TRPM4 Gene Associated with Congenital Long QT Syndrome: A Case Report
    Huang, Rui
    Luo, Yinhua
    Lei, Yuhua
    Li, Yuanhong
    RESEARCH REPORTS IN CLINICAL CARDIOLOGY, 2022, 13
  • [45] Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report
    Magdalena Dziedzic
    Agata Marjańska
    Katarzyna Bąbol-Pokora
    Anna Urbańczyk
    Elżbieta Grześk
    Wojciech Młynarski
    Sylwia Kołtan
    Pediatric Rheumatology, 15
  • [46] Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report
    Dziedzic, Magdalena
    Marjanska, Agata
    Babol-Pokora, Katarzyna
    Urbanczyk, Anna
    Grzesk, Elzbieta
    Mlynarski, Wojciech
    Koltan, Sylwia
    PEDIATRIC RHEUMATOLOGY, 2017, 15
  • [47] Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation
    Cheng, Ruhong
    Yan, Ming
    Ni, Cheng
    Zhang, Jia
    Li, Ming
    Yao, Zhirong
    JOURNAL OF DERMATOLOGY, 2016, 43 (10): : 1201 - 1204
  • [48] A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum
    Qian Peng
    Yan Deng
    Yuan Yang
    Hanmin Liu
    BMC Pediatrics, 16
  • [49] A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum
    Peng, Qian
    Deng, Yan
    Yang, Yuan
    Liu, Hanmin
    BMC PEDIATRICS, 2016, 16
  • [50] Mild Phenotype Associated with SLC6A1 Gene Mutation: A Case Report with Literature Review
    Posar, Annio
    Visconti, Paola
    JOURNAL OF PEDIATRIC NEUROSCIENCES, 2019, 14 (02) : 100 - 102