Lost Code, Liver Load: Navigating Hepatic Involvement in 17q12 Microdeletion Syndrome

被引：0
|
作者：
Witten, Brandon [1 ]
Folk, Akira [1 ]
Cheong, Samuel H. [2 ]
Elliott, Alexis [1 ]
Tey, Kai Rou [1 ]
机构：
[1] Univ Arizona, Coll Med, Tucson, AZ USA
[2] Banner Univ Arizona, Tucson, AZ USA
来源：
AMERICAN JOURNAL OF GASTROENTEROLOGY | 2024年 / 119卷 / 10S期
关键词：
D O I：
10.14309/01.ajg.0001046100.09370.7a
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
S4183
引用
收藏
页码：S2704 / S2704
页数：1
相关论文
共 50 条
  • [31] Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome
    Cai, Meiying
    Lin, Min
    Guo, Nan
    Fu, Meimei
    Xu, Liangpu
    Lin, Na
    Huang, Hailong
    FRONTIERS IN PEDIATRICS, 2022, 10
  • [32] Complex neuropsychiatric presentation of 17q12 duplication syndrome: A case report
    Das, Soumitra
    Samarasinghe, Lochana
    Deva, Sheryl
    Co, Elaiza Marie Fernandez
    Poudel, Sujan
    Dave, Tirth
    Prasad, Sakshi
    Sarangi, Ashish
    SAGE OPEN MEDICAL CASE REPORTS, 2024, 12
  • [33] Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion
    Chen, Chih-Ping
    Wu, Fang-Tzu
    Pan, Yen-Ting
    Wu, Peih-Shan
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2024, 63 (01): : 77 - 80
  • [34] Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report
    Guzman, Guillermo Edinson
    Madariaga, Ithzayana
    Vargas, Carlos Julio
    Galeano, Laura Ballen
    Guerra, Maria Angelica
    Nastasi, Jose Antonio
    JOURNAL OF MEDICAL CASE REPORTS, 2023, 17 (01)
  • [35] A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1(3 Gene Mutation Accompanied
    Zhang, Shuping
    Ma, Yamei
    Zang, Xiu
    Heng, Hao
    Liu, Xuekui
    Peng, Gangshan
    Liu, Ran
    Liang, Jun
    Geng, Houfa
    APPLICATION OF CLINICAL GENETICS, 2024, 17 : 125 - 130
  • [36] Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report
    Guillermo Edinson Guzmán
    Ithzayana Madariaga
    Carlos Julio Vargas
    Laura Ballen Galeano
    Maria Angélica Guerra
    Jose Antonio Nastasi
    Journal of Medical Case Reports, 17
  • [37] 17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature
    Cohen, Lilian
    Samanich, Joy
    Pan, Quilu
    Mehta, Lakshmi
    Marion, Robert
    JOURNAL OF PEDIATRIC GENETICS, 2012, 1 (02) : 135 - 141
  • [38] Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
    Vasileiou, Georgia
    Hoyer, Juliane
    Thiel, Christian T.
    Schaefer, Jan
    Zapke, Maren
    Krumbiegel, Mandy
    Kraus, Cornelia
    Zweier, Markus
    Uebe, Steffen
    Ekici, Arif B.
    Schneider, Michael
    Wiesener, Michael
    Rauch, Anita
    Faschingbauer, Florian
    Reis, Andre
    Zweier, Christiane
    Popp, Bernt
    PRENATAL DIAGNOSIS, 2019, 39 (12) : 1136 - 1147
  • [39] Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies
    Li, Ru
    Fu, Fang
    Zhang, Yong-Ling
    Li, Dong-Zhi
    Liao, Can
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2014, 53 (04): : 579 - 582
  • [40] Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion
    Clissold, Rhian L.
    Ashfield, Beth
    Burrage, Joe
    Hannon, Eilis
    Bingham, Coralie
    Mill, Jonathan
    Hattersley, Andrew
    Dempster, Emma L.
    CLINICAL EPIGENETICS, 2018, 10
12345