A novel heterozygous pathogenic variant in the HMGA2 gene causing Silver-Russell Syndrome, a case-report

被引：0
|
作者：
Fisch-Shvalb, Naama [1 ,2 ]
Shefer-Averbuch, Noa [1 ,2 ,3 ]
机构：
[1] Schneider Childrens Med Ctr Israel, Natl Ctr Childhood Diabet, Jesse Z & Sara Lea Shafer Inst Endocrinol & Diabe, Petah Tiqwa, Israel
[2] Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel
[3] Beilinson Med Ctr, Rabin Med Ctr, Recanati Genet Inst, Petah Tiqwa, Israel
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2023年 / 96卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P2-12
引用
收藏
页码：526 / 526
页数：1
相关论文
共 50 条
  • [41] Uniparental disomy causing Myoclonus Dystonia Syndrome associated with Russell Silver Syndrome: a case report
    Spengler, Danielle
    Moore, Henry
    NEUROLOGY, 2018, 90
  • [42] A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene
    Tranel, Elizabeth S.
    McGowan, Bridget
    Drackley, Andy
    Epstein, Leon G.
    Rao, Vamshi K.
    Kuntz, Nancy L.
    Schwaede, Abigail N.
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2024, 38
  • [43] CDKN1C gene mutation causing familial Silver–Russell syndrome: A case report and review of literature
    Jie Li
    Li-Na Chen
    Hai-Lan He
    World Journal of Clinical Cases, 2023, (19) : 4655 - 4663
  • [44] Diagnostics and follow-up strategy for Silver-Russell syndrome based on a case report showing familial accumulation
    Kovacs Arpad Ferenc
    Beniczky Nikolett Jusztina
    Bertalan Rita Agnes
    Sallai Agnes
    ORVOSI HETILAP, 2022, 163 (45) : 1775 - 1781
  • [45] Prenatal diagnosis of Silver-Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review
    Wu, Ke
    Zhu, Yuying
    Zhu, Qiumin
    FRONTIERS IN GENETICS, 2024, 15
  • [46] A case of Chopra-Amiel-Gordon syndrome with a novel heterozygous variant in the ANKRD17 gene: A case report
    Tinatin, Tkemaladze
    Kakha, Bregvadze
    Mikheil, Gogoberishvili
    Tamari, Sopromadze-Diebold
    Elene, Abzianidze
    SAGE OPEN MEDICAL CASE REPORTS, 2023, 11
  • [47] Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report
    Ehrstedt, Christoffer
    Liu, Wei-Wei
    Frykholm, Carina
    Beeson, David
    Punga, Anna Rostedt
    NEUROMUSCULAR DISORDERS, 2022, 32 (01) : 80 - 83
  • [48] A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome
    Machado, Renato A.
    Ferreira, Shirlene B.
    Martins, Luciane
    Ribeiro, Mariana M.
    Martelli, Daniella R. B.
    Coletta, Ricardo D.
    Aguiar, Marcos J. B.
    Martelli-Junior, Hercilio
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (10) : 2838 - 2843
  • [49] Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
    Ramirez-Montano, Diana
    Pachajoa, Harry
    COLOMBIA MEDICA, 2019, 50 (01): : 40 - 45
  • [50] Novel pathogenic variant in KCNJ2: an Andersen-Tawil syndrome case report
    Yim, Jisook
    Kim, Myungshin
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S188 - S188
12345