Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature

被引：0
|
作者：
Zahra Beyzaei
Fatih Ezgu
Bita Geramizadeh
Alireza Alborzi
Alireza Shojazadeh
机构：
[1] Shiraz University of Medical Sciences,Shiraz Transplant Research Center (STRC)
[2] Gazi University,Department of Pediatric Metabolism and Genetic, Faculty of Medicine
[3] Shiraz University of Medical Sciences,Department of Pathology
[4] Shiraz University of Medical Sciences,Student Research Committee
来源：
BMC Medical Genomics | / 14卷
关键词：
syndrome; Cirrhosis; Wolff–Parkinson–White syndrome; Targeted gene sequencing;
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 31 条
  • [1] Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature
    Beyzaei, Zahra
    Ezgu, Fatih
    Geramizadeh, Bita
    Alborzi, Alireza
    Shojazadeh, Alireza
    BMC MEDICAL GENOMICS, 2021, 14 (01)
  • [2] IN VITRO MODELING OF A NOVEL GENE VARIANT OF PRKAG2 CARDIOMYOPATHY USING CARDIOMYOCYTES DERIVED FROM HUMAN INDUCED PLURIPOTENT STEM CELLS
    Carvalho, A. C.
    Bezerra, I. P.
    Barboza, R. A.
    Coutinho, K. D.
    Sternick, E. B.
    Brunswick, T.
    Carvalho, A. B.
    CYTOTHERAPY, 2022, 24 (05) : S149 - S149
  • [3] PRKAG2 Syndrome Caused by a Novel Missense Variant Mimicked Sporadic Hypertrophic Cardiomyopathy Until Its Progression to Burned-Out Phase
    Hiruma, Takashi
    Inoue, Shunsuke
    Ko, Toshiyuki
    Nomura, Seitaro
    Abe, Ryo
    Bujo, Chie
    Ishida, Junichi
    Takeda, Norifumi
    Amiya, Eisuke
    Hatano, Masaru
    Abe, Hiroyuki
    Morita, Hiroyuki
    Ono, Minoru
    Takeda, Norihiko
    Komuro, Issei
    CIRCULATION-HEART FAILURE, 2024, 17 (12) : e012047
  • [4] Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature
    Buthainah Albash
    Faiqa Imtiaz
    Hamad Al-Zaidan
    Hadeel Al-Manea
    Mohammed Banemai
    R. Allam
    Ali Al-Suheel
    Mohammed Al-Owain
    European Journal of Pediatrics, 2014, 173 : 647 - 653
  • [5] Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature
    Albash, Buthainah
    Imtiaz, Faiqa
    Al-Zaidan, Hamad
    Al-Manea, Hadeel
    Banemai, Mohammed
    Allam, R.
    Al-Suheel, Ali
    Al-Owain, Mohammed
    EUROPEAN JOURNAL OF PEDIATRICS, 2014, 173 (05) : 647 - 653
  • [6] PRKAG2 syndrome as a highly arrhythmogenic eventuality in the differential diagnosis of hypertrophic cardiomyopathy - an example of two families with a confirmed causative DNA variant
    Hodbod'ova, Marketa
    Krebsova, Alice
    Peldova, Petra
    Polasek, Rostislav
    Roubicek, Tomas
    COR ET VASA, 2023, 65 (03) : 538 - 544
  • [7] Tumor necrosis factor-alpha inhibitors for the treatment of psoriasis patients with liver cirrhosis: A report of four cases with a literature review
    Ergun, Tulin
    Seckin-Gencosmanoglu, Dilek
    Salman, Andac
    Qzgen, Zuleyha
    Ocak, Esra Sarac
    Avsar, Erol
    Imeryuz, Nese
    INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, 2017, 83 (01) : 55 - 59
  • [8] MALIGNANT-LYMPHOMA OF THE LIVER - REPORT OF 5 CASES AND REVIEW OF THE LITERATURE
    OHSAWA, M
    AOZASA, K
    HORIUCHI, K
    KATAOKA, M
    HIDA, J
    SHIMADA, H
    OKA, K
    WAKATA, Y
    DIGESTIVE DISEASES AND SCIENCES, 1992, 37 (07) : 1105 - 1109
  • [9] Primary liver sarcomatous carcinoma: Report of two cases and review of the literature
    Giunchi, Francesca
    Vasuri, Francesco
    Baldin, Pamela
    Rosini, Francesca
    Corti, Barbara
    D'Errico-Grigioni, Antonia
    PATHOLOGY RESEARCH AND PRACTICE, 2013, 209 (04) : 249 - 254
  • [10] Giant Hyperplasia of the Caudate Lobe in a Patient with Liver Cirrhosis: Case Report and Literature Review
    Choi, Jeong Ho
    Jun, Dae Won
    Lee, Han Hyo
    Song, Mun Hee
    Kim, Seong Hwan
    Jo, Yun Ju
    Park, Young Sook
    Jung, Jun Young
    Lee, Won Mi
    GUT AND LIVER, 2008, 2 (03) : 205 - 208
1234