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
  • [31] Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene
    Bonanno, Carmen
    Rodolico, Carmelo
    Topf, Ana
    Foti, Francesca Maria
    Liu, Wei-Wei
    Beeson, David
    Toscano, Antonio
    Lochmuller, Hanns
    NEUROMUSCULAR DISORDERS, 2020, 30 (04) : 336 - 339
  • [32] Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
    Timmerman, V
    De Jonghe, P
    Ceuterick, C
    De Vriendt, E
    Löfgren, A
    Nelis, E
    Warner, LE
    Lupski, JR
    Martin, JJ
    Van Broeckhoven, C
    NEUROLOGY, 1999, 52 (09) : 1827 - 1832
  • [33] Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen-Tawil Syndrome
    Fernlund, E.
    Lundin, C.
    Hertervig, E.
    Kongstad, O.
    Alders, M.
    Platonov, P.
    ANNALS OF NONINVASIVE ELECTROCARDIOLOGY, 2013, 18 (05) : 471 - 478
  • [34] A point mutation associated with a severe phenotype of neurofibromatosis 2
    MacCollin, M
    Braverman, N
    Viskochil, D
    Ruttledge, M
    Davis, K
    Ojemann, R
    Gusella, J
    Parry, DM
    ANNALS OF NEUROLOGY, 1996, 40 (03) : 440 - 445
  • [35] A SEVERE SPINAL MUSCULAR ATROPHY PHENOTYPE ASSOCIATED WITH A NOVEL BICD2 MUTATION
    Kichula, E. A.
    Medne, L.
    Zackai, E. H.
    Estilow, T.
    Harding, B.
    Banwell, B.
    Yum, S. W.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2016, 21 (03) : 269 - 269
  • [36] A Novel Gene Mutation and Atypical Clinical Phenotype of Kallmann Syndrome
    Yumiko, Terada
    Fujisawa, Yusuke
    Chiba, Yuta
    Kinjo, Kenichi
    Tsukamura, Atsushi
    Yamaguchi, Tomoe
    Yoshii, Keisuke
    Naiki, Yasuhiro
    Horikawa, Reiko
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 593 - 593
  • [37] Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype
    Gucev, Z.
    Koceva, S.
    Marinaki, A.
    Fairbanks, L.
    Kirovski, I.
    Tasic, V.
    CLINICAL GENETICS, 2010, 78 (03) : 296 - 297
  • [38] A splicing mutation of the HMGA2 gene is associated with Silver–Russell syndrome phenotype
    Agostina De Crescenzo
    Valentina Citro
    Andrea Freschi
    Angela Sparago
    Orazio Palumbo
    Maria Vittoria Cubellis
    Massimo Carella
    Pia Castelluccio
    Maria Luigia Cavaliere
    Flavia Cerrato
    Andrea Riccio
    Journal of Human Genetics, 2015, 60 : 287 - 293
  • [39] A novel missense Norrie disease mutation associated with a severe ocular phenotype
    Khan, AO
    Shamsi, FA
    Al-Saif, A
    Kambouris, M
    JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 2004, 41 (06) : 361 - 363
  • [40] A novel homozygous mutation in the SLCO2A1 gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient
    Ayoub, Nedhal
    Al-Khenaizan, Sultan
    Sonbol, Haitham
    Albreakan, Rakan
    AlSufyani, Mohammed
    AlBalwi, Mohammed
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2015, 54 (06) : E233 - E235