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
  • [31] Identification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report
    Zhang, Ya'nan
    Guo, Xinyi
    Hao, Ling
    Tian, Meihui
    Ma, Yuan
    Tang, Yong
    JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2023, 51 (12)
  • [32] Silver-Russell syndrome associated with type-I Chiari malformation. A case report
    Naeem, Babar
    Nasim, Javeria
    Sultan, Tipu
    CLINICAL CASE REPORTS, 2023, 11 (04):
  • [33] Case report: Duplication of the GCK gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7
    Shoji, Takashi
    Yamauchi, Ichiro
    Kawasaki, Hidenori
    Iwanaga, Kogoro
    Hakata, Takuro
    Tanaka, Daisuke
    Fujikura, Junji
    Masui, Toshihiko
    Suzuki, Hisato
    Yamada, Mamiko
    Kosaki, Kenjiro
    Kasai, Yosuke
    Hatano, Etsuro
    Inaba, Akira
    Wada, Takahito
    Kosugi, Shinji
    Ueda, Yohei
    Fujii, Toshihito
    Taura, Daisuke
    Inagaki, Nobuya
    FRONTIERS IN ENDOCRINOLOGY, 2024, 15
  • [34] Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant
    Ventresca, Silvia
    Lepri, Francesca Romana
    Criscuolo, Sabrina
    Bottaro, Giorgia
    Novelli, Antonio
    Loche, Sandro
    Cappa, Marco
    FRONTIERS IN ENDOCRINOLOGY, 2024, 15
  • [35] A novel pathogenic variant in LCAT causing FLD. A case report
    Goni Ros, Nuria
    Gonzalez-Tarancon, Ricardo
    Sienes Bailo, Paula
    Salvador-Ruperez, Elvira
    Puzo Bayod, Martin
    Puzo Foncillas, Jose
    ACTA CLINICA BELGICA, 2022, 77 (06) : 970 - 975
  • [36] Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver-Russell Syndrome
    Xia, Chun-Ling
    Lyu, Yuan
    Li, Chuang
    Li, Huan
    Zhang, Zhi-Tao
    Yin, Shao-Wei
    Mao, Yan
    Li, Wen
    Kong, Ling-Yin
    Liang, Bo
    Jiang, Hong-Kun
    Li-Ling, Jesse
    Liu, Cai-Xia
    Wei, Jun
    FRONTIERS IN GENETICS, 2019, 10
  • [37] A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report
    Suliman, Asem
    Yan, Weiang
    Yamashita, Michael H.
    Krentz, Anthony D.
    Mhanni, Aizeddin
    Garber, Philip J.
    EUROPEAN HEART JOURNAL-CASE REPORTS, 2022, 6 (03)
  • [38] A Novel Variant in the FBN1 Gene Causing Marfan Syndrome: A Case Report
    Jimenez-Berrios, Gabriel A.
    Vazquez-Folch, Sebastian J.
    Izquierdo, Natalio
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2024, 16 (03)
  • [39] Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report
    Vado, Yerai
    Errea-Dorronsoro, Javier
    Llano-Rivas, Isabel
    Gorria, Nerea
    Pereda, Arrate
    Gener, Blanca
    Garcia-Naveda, Laura
    Perez de Nanclares, Guiomar
    BMC MEDICAL GENOMICS, 2018, 11
  • [40] Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report
    Yerai Vado
    Javier Errea-Dorronsoro
    Isabel Llano-Rivas
    Nerea Gorria
    Arrate Pereda
    Blanca Gener
    Laura Garcia-Naveda
    Guiomar Perez de Nanclares
    BMC Medical Genomics, 11
12345