TSC2-PKD1 contiguous gene syndrome in an infant with multiorgan involvement

被引：0
|
作者：
Bekassy, Z.
Bjorkhem, G.
Bynke, G.
Lundgren, J.
Landehag, J.
机构：
[1] Univ Childrens Hosp, Dept Pediat, Lund, Sweden
[2] Blekinge Hosp, Dept Pediat, Karlskrona, Sweden
来源：
PEDIATRIC NEPHROLOGY | 2007年 / 22卷 / 09期
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：1509 / 1509
页数：1
相关论文
共 50 条
  • [1] Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome
    Dauwerse, JG
    Bouman, K
    van Essen, AJ
    van der Hout, AH
    Kolsters, G
    Breuning, MH
    Peters, DJM
    JOURNAL OF MEDICAL GENETICS, 2002, 39 (02) : 136 - 141
  • [2] Phenytoin-associated severe hypocalcemia with seizures in a patient with a TSC2-PKD1 contiguous gene syndrome
    Nseir, Ghaleb
    Golshayan, Dela
    Barbey, Frederic
    RENAL FAILURE, 2013, 35 (06) : 866 - 868
  • [3] 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
  • [4] The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome-Case Series
    Orosz, Petronella
    Kollak, Zita
    Petho, Akos
    Fogarasi, Andras
    Reusz, Gyorgy
    Hadzsiev, Kinga
    Szabo, Tamas
    CHILDREN-BASEL, 2023, 10 (03):
  • [5] A case of TSC2-PKD1 contiguous deletion syndrome: Clinical features and effective treatment for epilepsy
    Pan, Xiaoyu
    Yang, Chengqing
    Ma, Shaochun
    Wang, Weihong
    Liu, Peipei
    Guo, Ya
    Liu, Yedan
    Song, Jie
    Wu, Sifei
    Yi, Liping
    Wei, Wei
    Chen, Zongbo
    INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, 2021, 81 (02) : 191 - 199
  • [6] The TSC2/PKD1 contiguous gene syndrome
    Harris, PC
    HEREDITARY KIDNEY DISEASES, 1997, 122 : 76 - 82
  • [7] TSC2/PKD1 contiguous gene syndrome
    Cammarata-Scalisi, Francisco
    Vidales Moreno, Concha
    Zara-Chirinos, Carmen
    Bracho, Ana
    Perez, Diomar
    NEFROLOGIA, 2017, 37 (06): : 663 - 665
  • [8] 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
  • [9] PKD1/TSC2 contiguous gene deletion syndrome
    Sundaram, Madhivanan
    Kookana, Anil
    Duncan, Henry
    Mathew, Ravi
    NEPHROLOGY, 2017, 22 (08) : 656 - 657
  • [10] 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
12345