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
  • [21] Neurobehavioral and Neurocognitive Profile of an 8-Year-Old Male with a 17q12 Microdeletion
    Waldman, M.
    Blackwell, M.
    Culotta, V
    ARCHIVES OF CLINICAL NEUROPSYCHOLOGY, 2014, 29 (06)
  • [22] A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy
    Hinkes, Bernward
    Hilgers, Karl F.
    Bolz, Hanno J.
    Goppelt-Struebe, Margarete
    Amann, Kerstin
    Nagl, Sandra
    Bergmann, Carsten
    Rascher, Wolfgang
    Eckardt, Kai-Uwe
    Jacobi, Johannes
    BMC NEPHROLOGY, 2012, 13
  • [23] A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy
    Bernward Hinkes
    Karl F Hilgers
    Hanno J Bolz
    Margarete Goppelt-Struebe
    Kerstin Amann
    Sandra Nagl
    Carsten Bergmann
    Wolfgang Rascher
    Kai-Uwe Eckardt
    Johannes Jacobi
    BMC Nephrology, 13
  • [24] Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
    Bernardini, Laura
    Gimelli, Stefania
    Gervasini, Cristina
    Carella, Massimo
    Baban, Anwar
    Frontino, Giada
    Barbano, Giancarlo
    Divizia, Maria Teresa
    Fedele, Luigi
    Novelli, Antonio
    Bena, Frederique
    Lalatta, Faustina
    Miozzo, Monica
    Dallapiccola, Bruno
    ORPHANET JOURNAL OF RARE DISEASES, 2009, 4
  • [25] Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
    Laura Bernardini
    Stefania Gimelli
    Cristina Gervasini
    Massimo Carella
    Anwar Baban
    Giada Frontino
    Giancarlo Barbano
    Maria Teresa Divizia
    Luigi Fedele
    Antonio Novelli
    Frédérique Béna
    Faustina Lalatta
    Monica Miozzo
    Bruno Dallapiccola
    Orphanet Journal of Rare Diseases, 4
  • [26] Maternal 17q12 deletion is associated with a high risk of neuropsychiatric involvement
    Javorszky, Eszter
    Antal-Konya, Violetta
    Mattyus, Istvan
    Tory, Kalman
    PEDIATRIC NEPHROLOGY, 2024, 39 (01) : S329 - S329
  • [27] RENAL CYSTS AND DIABETES SYNDROME ASSOCIATED WITH A 17q12 DELETION
    Kolangaden, Zubin
    Green, Jamie Alton
    AMERICAN JOURNAL OF KIDNEY DISEASES, 2014, 63 (05) : A69 - A69
  • [28] ATYPICAL HNF1B PHENOTYPE WITH REFRACTORY HYPOMAGNESEMIA (17Q12, 1.4 MICRODELETION)
    Hardy, Alexandra
    Mao, Michael
    AMERICAN JOURNAL OF KIDNEY DISEASES, 2024, 83 (04) : S23 - S23
  • [29] Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations
    Hasegawa, Yutaka
    Takahashi, Yoshihiko
    Nagasawa, Kan
    Kinno, Hirofumi
    Oda, Tomoyasu
    Hangai, Mari
    Odashima, Yoshimi
    Suzuki, Yoko
    Shimizu, Jun
    Ando, Toshihiko
    Egawa, Isao
    Hashizume, Kouhei
    Nata, Koji
    Yabe, Daisuke
    Horikawa, Yukio
    Ishigaki, Yasushi
    INTERNAL MEDICINE, 2024, 63 (05) : 687 - 692
  • [30] Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series
    Jing, Xiang-Yi
    Huang, Lv-Yin
    Zhen, Li
    Han, Jin
    Li, Dong-Zhi
    JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2019, 39 (03) : 323 - 327
12345