Two novel mutations in the PTPN11 gene associated with Noonan and LEOPARD syndromes

被引:0
|
作者
Ylonen, S
Körkkö, J
Somer, M
Ignatius, J
机构
[1] Univ Hosp, Dept Clin Genet, Oulu, Finland
[2] Finnish Family Federat, Dept Clin Genet, Helsinki, Finland
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2425
引用
收藏
页码:581 / 581
页数:1
相关论文
共 50 条
  • [41] Congenital heart defects in Noonan syndrome and PTPN11 muta□onCongenital heart defects in Noonan syndrome and PTPN11 mutation
    Popa, Laura Claudia
    Andreescu, Nicoleta
    Farcas, Simona
    Chirita-Emandi, Adela
    Puiu, Maria
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 185 - 186
  • [42] Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals
    Yildirim, Ruken
    Unal, Edip
    Ozalkak, Servan
    Akalin, Akcahan
    Aykut, Ayca
    Yilmaz, Nevzat
    JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2024, 16 (01) : 76 - 83
  • [43] A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy
    Kunihiko Takahashi
    Shigetoyo Kogaki
    Shunji Kurotobi
    Sayaka Nasuno
    Makiko Ohta
    Hitomi Okabe
    Kazuko Wada
    Norio Sakai
    Masako Taniike
    Keiichi Ozono
    European Journal of Pediatrics, 2005, 164 : 497 - 500
  • [44] EXTENDING THE SPECTRUM OF PTPN11 GERMLINE MUTATIONS ASSOCIATED WITH JUVENILE MYELOMONOCYTIC LEUKEMIA IN CHILDREN WITH NOONAN SYNDROME
    Strullu, M.
    Caye, A.
    Gazal, S.
    Lachenaud, J.
    Cassinat, B.
    Fenneteau, O.
    Mechinaud, F.
    Dalle, J. H.
    Bertrand, Y.
    Baruchel, A.
    Verloes, A.
    Chomienne, C.
    Cave, H.
    HAEMATOLOGICA, 2012, 97 : 244 - 244
  • [45] Mild variable Noonan syndrome in a family with a novel PTPN11 mutation
    Zenker, Martin
    Voss, Egbert
    Reis, Andre
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2007, 50 (01) : 43 - 47
  • [46] A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy
    Takahashi, K
    Kogaki, S
    Kurotobi, S
    Nasuno, S
    Ohta, M
    Okabe, H
    Wada, K
    Sakai, N
    Taniike, M
    Ozono, K
    EUROPEAN JOURNAL OF PEDIATRICS, 2005, 164 (08) : 497 - 500
  • [47] Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations
    Becker, Kristin
    Hughes, Helen
    Howard, Karol
    Armstrong, Maggie
    Roberts, Devender
    Lazda, Edgar J.
    Short, John P.
    Shaw, Adam
    Patton, Michael A.
    Tartaglia, Marco
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (11) : 1249 - 1252
  • [48] PTPN11 gene mutations:: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype"
    Digilio, M. Cristina
    Sarkozy, Anna
    Pacileo, Giuseppe
    Limongelli, Giuseppe
    Marino, Bruno
    Dallapiccola, Bruno
    EUROPEAN JOURNAL OF PEDIATRICS, 2006, 165 (11) : 803 - 805
  • [49] PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”
    M. Cristina Digilio
    Anna Sarkozy
    Giuseppe Pacileo
    Giuseppe Limongelli
    Bruno Marino
    Bruno Dallapiccola
    European Journal of Pediatrics, 2006, 165 : 803 - 805
  • [50] Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants
    Ranza, Emmanuelle
    Guimier, Anne
    Verloes, Alain
    Capri, Yline
    Marques, Charles
    Auclair, Martine
    Mathieu-Dramard, Michele
    Morin, Gilles
    Thevenon, Julien
    Faivre, Laurence
    Thauvin-Robinet, Christel
    Innes, A. Micheil
    Dyment, David A.
    Vigouroux, Corinne
    Amiel, Jeanne
    CLINICAL GENETICS, 2020, 98 (01) : 10 - 18