PKD1/TSC2 contiguous gene deletion syndrome

被引:0
|
作者
Sundaram, Madhivanan [1 ]
Kookana, Anil [1 ]
Duncan, Henry [1 ]
Mathew, Ravi [1 ]
机构
[1] Royal Darwin Hosp, Dept Med, Div Nephrol, Tiwi, NT, Australia
关键词
D O I
10.1111/nep.12847
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:656 / 657
页数:2
相关论文
共 50 条
  • [1] TSC2/PKD1 Contiguous Gene Deletion Syndrome
    Montero, Javier Arredondo
    Anaut, Monica Bronte
    Velayos, Maria
    Sarmiento, Maria del Carmen
    Amoros, Carla Ramirez
    Lopez-Pereira, Pedro
    CLINICAL PEDIATRICS, 2024, 63 (03) : 411 - 413
  • [2] TSC2/PKD1 contiguous gene deletion syndrome
    Ryan, Niamh
    Hanrahan, Donncha
    Bogue, Conor
    Stack, Maria
    McSweeney, Niamh
    EUROPEAN JOURNAL OF PEDIATRICS, 2017, 176 (11) : 1539 - 1539
  • [3] TSC2/PKD1 contiguous gene deletion syndrome
    Llamas Velasco, S.
    Camacho Salas, A.
    Vidales Moreno, C.
    Ceballos Rodriguez, R. M.
    Murcia Garcia, F. J.
    Simon de la Heras, R.
    ANALES DE PEDIATRIA, 2013, 79 (01): : 42 - 45
  • [4] The TSC2/PKD1 contiguous gene syndrome
    Harris, PC
    HEREDITARY KIDNEY DISEASES, 1997, 122 : 76 - 82
  • [5] TSC2/PKD1 contiguous gene syndrome
    Cammarata-Scalisi, Francisco
    Vidales Moreno, Concha
    Zara-Chirinos, Carmen
    Bracho, Ana
    Perez, Diomar
    NEFROLOGIA, 2017, 37 (06): : 663 - 665
  • [6] TSC2/PKD1 CONTIGUOUS GENE DELETION SYNDROME - CASE REPORT
    Kosuljandic, Durdica
    Prpic, Igor
    Kolic, Ivana
    Miletic, Damir
    PEDIATRIC NEPHROLOGY, 2022, 37 (11) : 2930 - 2931
  • [7] TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report
    Huang, Shaofang
    Xu, Kangxiang
    Xu, Yuqi
    Zhao, Lu
    He, Xiaoju
    FRONTIERS IN MEDICINE, 2023, 10
  • [8] Renal disease in adults with TSC2/PKD1 contiguous gene syndrome
    Martignoni, G
    Bonetti, F
    Pea, M
    Tardanico, R
    Brunelli, M
    Eble, JN
    AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2002, 26 (02) : 198 - 205
  • [9] Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome
    Keita Osumi
    Kenichi Suga
    Akemi Ono
    Aya Goji
    Tatsuo Mori
    Yukiko Kinoshita
    Mikio Sugano
    Yoshihiro Toda
    Maki Urushihara
    Ryuji Nakagawa
    Yasunobu Hayabuchi
    Issei Imoto
    Shoji Kagami
    Human Genome Variation, 7
  • [10] Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome
    Shang, Shunlai
    Mei, Yan
    Wang, Tao
    Zheng, Xinyi
    Chen, Keng
    Xiong, Shishi
    Dong, Yu
    Chang, Yuanyuan
    Wu, Xiaoyuan
    Kong, Xiangdong
    Tan, Mei
    Wu, Li
    Zhang, Yingjie
    Xiao, Yunming
    Xie, Yuansheng
    Cai, Guangyan
    Chen, Xiangmei
    Li, Qinggang
    CLINICAL NEPHROLOGY, 2022, 97 (06) : 328 - 338