Identification of a novel mutation of PIEZO2 gene as a cause of Distal Arthogryposis on a child: a case report

被引：0
|
作者：
Torres, Javier [1 ]
Macho, Fernando [1 ]
Quintanilla, Maria L. [1 ]
Simarro, Esther [1 ]
Carrascosa, Maria C. [1 ]
Navarro, Laura [1 ]
机构：
[1] Hosp Gen Univ Albacete, Albacete, Spain
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期
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：
P10.048.D
引用
收藏
页码：320 / 320
页数：1
相关论文
共 50 条
  • [31] Novel AARS2 gene mutation producing leukodystrophy: a case report
    Szpisjak, Laszlo
    Zsindely, Nora
    Engelhardt, Jozsef I.
    Vecsei, Laszlo
    Kovacs, Gabor G.
    Klivenyi, Peter
    JOURNAL OF HUMAN GENETICS, 2017, 62 (02) : 329 - 333
  • [32] A novel type 2N VWF gene mutation: a case report
    Evans, Matthew S.
    Eyster, M. Elaine
    BLOOD COAGULATION & FIBRINOLYSIS, 2018, 29 (07) : 651 - 652
  • [33] Novel AARS2 gene mutation producing leukodystrophy: a case report
    Laszlo Szpisjak
    Nora Zsindely
    Jozsef I Engelhardt
    Laszlo Vecsei
    Gabor G Kovacs
    Peter Klivenyi
    Journal of Human Genetics, 2017, 62 : 329 - 333
  • [34] Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights
    Li, Xiaobing
    Zhang, Tingqiang
    Li, Xuemei
    Wang, Li
    Li, Qian
    Liu, Qianqian
    He, Chengyin
    Zhang, Li
    Liu, Yongsheng
    Tang, Junling
    FRONTIERS IN GENETICS, 2025, 15
  • [35] Case report: Mutation in NPPA gene as a cause of fibrotic atrial myopathy
    Cunha, Pedro Silva
    Antunes, Diana Oliveira
    Laranjo, Sergio
    Coutinho, Ana
    Abecasis, Joao
    Oliveira, Mario Martins
    FRONTIERS IN CARDIOVASCULAR MEDICINE, 2023, 10
  • [36] Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report
    Peng, Wu
    Shi, Shuxia
    Yang, Liqi
    Liu, Deyun
    MEDICINE, 2024, 103 (29)
  • [37] Thyroid hormone resistance resulting from a novel mutation in the THRB gene in a Chinese child: A case report
    Feng, Jinhua
    Lin, Shuangzhu
    Wang, Wei
    Chen, Qiandui
    Wang, Wanqi
    Li, Jiayi
    Wang, Xinyao
    MEDICINE, 2023, 102 (17) : E33587
  • [38] Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report
    Wang, Xing-Chen
    Wang, Ting
    Liu, Rui-Han
    Jiang, Yan
    Chen, Dan-Dan
    Wang, Xin-Yu
    Kong, Qing-Xia
    WORLD JOURNAL OF CLINICAL CASES, 2022, 10 (30) : 11082 - 11089
  • [39] Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene:A case report
    Xing-Chen Wang
    Ting Wang
    Rui-Han Liu
    Yan Jiang
    Dan-Dan Chen
    Xin-Yu Wang
    Qing-Xia Kong
    World Journal of Clinical Cases, 2022, 10 (30) : 11082 - 11089
  • [40] A Novel Mutation in MYH Gene Associated with Aggressive Colorectal Cancer in a Child: A Case Report and Review of Literature
    Tian, Xin
    Wang, Qian
    Cai, Weisong
    ONCOTARGETS AND THERAPY, 2020, 13 : 8557 - 8565
12345