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 50 条
  • [41] Rare Benign Focal Lesions of the Liver: Report of 2 Cases and Literature Review
    Cmarkova, Kristina
    Nosakova, Lenka
    Pindura, Miroslav
    Vojtko, Martin
    Banovcin, Peter
    Miklusica, Juraj
    CASE REPORTS IN GASTROENTEROLOGY, 2024, 18 (01) : 90 - 97
  • [42] HEMOPERITONEUM IN THE SETTING OF METASTATIC CANCER TO THE LIVER - A REPORT OF 2 CASES WITH REVIEW OF THE LITERATURE
    SCHOEDEL, KE
    DEKKER, A
    DIGESTIVE DISEASES AND SCIENCES, 1992, 37 (01) : 153 - 154
  • [43] HEMOBILIA - REVIEW OF THE LITERATURE - REPORT ON 2 CASES
    HAMOIR, E
    DEFRAIGNE, JO
    BRUYNINX, L
    MEURISSE, M
    HONORE, P
    JACQUET, N
    JOURNAL DE CHIRURGIE, 1991, 128 (05): : 226 - 230
  • [44] EPIGNATHUS - A REPORT OF 2 CASES AND A REVIEW OF LITERATURE
    ABIOSE, BO
    AKINGBEHIN, NA
    MARINHO, AO
    EAST AFRICAN MEDICAL JOURNAL, 1988, 65 (01) : 60 - 66
  • [45] Pseudochylothorax - Report of 2 cases and review of the literature
    Garcia-Zamalloa, A
    Ruiz-Irastorza, G
    Aguayo, FJ
    Gurrutxaga, N
    MEDICINE, 1999, 78 (03) : 200 - 207
  • [46] CHYLOTHORAX - REPORT OF 2 CASES AND REVIEW OF LITERATURE
    GEFEL, A
    KARMAN, S
    LEVIT, T
    SIEGMANI.Y
    TERRACINA, S
    HULU, N
    ISRAEL JOURNAL OF MEDICAL SCIENCES, 1972, 8 (04): : 522 - +
  • [47] ODONTODYSPLASIA - REPORT OF 2 CASES AND REVIEW OF LITERATURE
    LUSTMANN, J
    KLEIN, H
    ULMANSKY, M
    ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTICS, 1975, 39 (05): : 781 - 793
  • [48] SPLENOSIS - REPORT OF 2 CASES AND REVIEW OF LITERATURE
    BREWSTER, DC
    AMERICAN JOURNAL OF SURGERY, 1973, 126 (01): : 14 - 19
  • [49] Polyorchidism: Report of 2 cases and review of the literature
    Naouar, Sahbi
    Maazoun, Kais
    Sahnoun, Lassaad
    Mekki, Mongi
    Belghith, Mohsen
    Nouri, Abdellatif
    PROGRES EN UROLOGIE, 2007, 17 (05): : 1008 - 1009
  • [50] HOMOCYSTINURIA - A REPORT OF 2 CASES AND REVIEW OF LITERATURE
    BEALS, RK
    JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 1969, A 51 (08): : 1564 - +
12345