A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome

被引:0
|
作者
Boutaina Zemrani
François Cachat
Olivier Bonny
Eric Giannoni
Jacques Durig
Florence Fellmann
Hassib Chehade
机构
[1] Lausanne University Hospital,Division of Pediatric Nephrology, Department of Pediatrics
[2] Lausanne University Hospital,Service of Nephrology
[3] Lausanne University Hospital,Service of Neonatology
[4] Lausanne University Hospital,Service of Ophthalmology
[5] Lausanne University Hospital,Service of Medical Genetics
关键词
Pierson syndrome; Newborn; Nephrotic syndrome; LAMB2 mutation;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [1] A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome
    Zemrani, Boutaina
    Cachat, Francois
    Bonny, Olivier
    Giannoni, Eric
    Durig, Jacques
    Fellmann, Florence
    Chehade, Hassib
    EUROPEAN JOURNAL OF MEDICAL RESEARCH, 2016, 21
  • [2] A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome
    Zhu, Hong Tao
    Maimaiti, Mireguli
    Cao, Chen
    Luo, Yan Fei
    Julaiti, Delihuma
    Liang, Lin
    Abudureheman, Aizezi
    FRONTIERS IN MEDICINE, 2019, 6
  • [3] Pierson Syndrome: A Case Report with a Neonatal Cardiac Association Based on a Novel Mutation in the LAMB2 Gene
    Parappil, Hussain
    Ali, Rehab
    Masud, Faraz
    Pai, Anant
    Nahavandi, Nahid
    Rolfs, Arndt
    Imam, Abubakr
    Shaddad, Afaf
    Mansour, Ashraf
    JOURNAL OF CLINICAL NEONATOLOGY, 2015, 4 (04) : 281 - 284
  • [4] LAMB2 gene: broad clinical spectrum in Pierson syndrome
    Leventoglu, Emre
    Donmez, Emine
    Kenan, Bahriye Uzun
    Yazicioglu, Burcu
    Buyukkaragoz, Bahar
    Fidan, Kibriya
    Bakkaloglu, Sevcan A.
    Soylemezoglu, Oguz
    CEN CASE REPORTS, 2024, 13 (04) : 258 - 263
  • [5] The first Chinese Pierson syndrome with novel mutations in LAMB2
    Zhao, Dan
    Ding, Jie
    Wang, Fang
    Fan, Qingfeng
    Guan, Na
    Wang, Suxia
    Zhang, Yan
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2010, 25 (03) : 776 - 778
  • [6] Bilateral retinal detachments in a patient with Pierson Syndrome with a missense LAMB2 mutation
    Gelinas, Nathaniel
    Holicki, Cameron
    Galang, Luis
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)
  • [7] A Novel Mutation of LAMB2 in a Multigenerational Mennonite Family Reveals a New Phenotypic Variant of Pierson Syndrome
    Mohney, Brian G.
    Pulido, Jose S.
    Lindor, Noralane M.
    Hogan, Marie C.
    Consugar, Mark B.
    Peters, Justin
    Pankratz, V. Shane
    Nasr, Samih H.
    Smith, Stephen J.
    Gloor, James
    Kubly, Vickie
    Spencer, Dorothy
    Nielson, Rebecca
    Puffenberger, Erik G.
    Strauss, Kevin A.
    Morton, D. Holmes
    Eldahdah, Lama
    Harris, Peter C.
    OPHTHALMOLOGY, 2011, 118 (06) : 1137 - 1144
  • [8] Two novel nonsense mutations in LAMB2 causing a typical form of Pierson syndrome
    Su, Baige
    Ru, Xifang
    Wang, Fang
    Liu, Shuping
    Wang, Suxia
    Ding, Jie
    Wang, Ying
    PEDIATRIC NEPHROLOGY, 2013, 28 (08) : 1458 - 1459
  • [9] First Japanese case of Pierson syndrome with mutations in LAMB2
    Togawa, Hiroko
    Nakanishi, Koichi
    Mukaiyama, Hironobu
    Hama, Taketsugu
    Shima, Yuko
    Nakano, Masaru
    Fujita, Naoya
    Iijima, Kazumoto
    Yoshikawa, Norishige
    PEDIATRICS INTERNATIONAL, 2013, 55 (02) : 229 - 231
  • [10] Expanding the spectrum of LAMB2 : Pierson syndrome associated with neuromuscular junction disorder in two patients
    Paiz, Freddy
    Alawneh, Issa
    Nigro, Elisa
    Gonorazky, Hernan D.
    NEUROMUSCULAR DISORDERS, 2024, 39 : 30 - 32