A Further Patient with Noonan Syndrome Due to a SOS1 Mutation and Rhabdomyosarcoma

被引：11
|
作者：
Hastings, Rob [1 ]
Newbury-Ecob, Ruth [1 ]
Ng, Antony [2 ]
Taylor, Rohan [3 ]
机构：
[1] Bristol Royal Hosp Children, Dept Clin Genet, Bristol, Avon, England
[2] Bristol Royal Hosp Children, Dept Pediat Oncol, Bristol, Avon, England
[3] St George Hosp, SW Thames Mol Genet Lab, London, England
来源：
GENES CHROMOSOMES & CANCER | 2010年 / 49卷 / 10期
关键词：
GENE;
D O I：
10.1002/gcc.20800
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
引用
下载
收藏
页码：967 / 968
页数：2
相关论文
共 50 条
  • [21] Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
    Yoko Narumi
    Yoko Aoki
    Tetsuya Niihori
    Masahiro Sakurai
    Hélène Cavé
    Alain Verloes
    Kimio Nishio
    Hirofumi Ohashi
    Kenji Kurosawa
    Nobuhiko Okamoto
    Hiroshi Kawame
    Seiji Mizuno
    Tatsuro Kondoh
    Marie-Claude Addor
    Anne Coeslier-Dieux
    Catherine Vincent-Delorme
    Koichi Tabayashi
    Masashi Aoki
    Tomoko Kobayashi
    Afag Guliyeva
    Shigeo Kure
    Yoichi Matsubara
    Journal of Human Genetics, 2008, 53 : 834 - 841
  • [22] Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome-associated Sos1 mutation
    Chen, Peng-Chieh
    Wakimoto, Hiroko
    Conner, David
    Araki, Toshiyuki
    Yuan, Tao
    Roberts, Amy
    Seidman, Christine E.
    Bronson, Roderick
    Neel, Benjamin G.
    Seidman, Jonathan G.
    Kucherlapati, Raju
    JOURNAL OF CLINICAL INVESTIGATION, 2010, 120 (12): : 4353 - 4365
  • [23] Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I
    Fabretto, Antonella
    Kutsche, Kerstin
    Harmsen, May-Britt
    Demarini, Sergio
    Gasparini, Paolo
    Fertz, Maria Cristina
    Zenker, Martin
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2010, 53 (05) : 322 - 324
  • [24] Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
    Tartaglia, Marco
    Pennacchio, Len A.
    Zhao, Chen
    Yadav, Kamlesh K.
    Fodale, Valentina
    Sarkozy, Anna
    Pandit, Bhaswati
    Oishi, Kimihiko
    Martinelli, Simone
    Schackwitz, Wendy
    Ustaszewska, Anna
    Martin, Joel
    Bristow, James
    Carta, Claudio
    Lepri, Francesca
    Neri, Cinzia
    Vasta, Isabella
    Gibson, Kate
    Curry, Cynthia J.
    Lopez Siguero, Juan Pedro
    Digilio, Maria Cristina
    Zampino, Giuseppe
    Dallapiccola, Bruno
    Bar-Sagi, Dafna
    Gelb, Bruce D.
    NATURE GENETICS, 2007, 39 (01) : 75 - 79
  • [25] Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
    Marco Tartaglia
    Len A Pennacchio
    Chen Zhao
    Kamlesh K Yadav
    Valentina Fodale
    Anna Sarkozy
    Bhaswati Pandit
    Kimihiko Oishi
    Simone Martinelli
    Wendy Schackwitz
    Anna Ustaszewska
    Joel Martin
    James Bristow
    Claudio Carta
    Francesca Lepri
    Cinzia Neri
    Isabella Vasta
    Kate Gibson
    Cynthia J Curry
    Juan Pedro López Siguero
    Maria Cristina Digilio
    Giuseppe Zampino
    Bruno Dallapiccola
    Dafna Bar-Sagi
    Bruce D Gelb
    Nature Genetics, 2007, 39 : 75 - 79
  • [26] EMBRYONAL RHABDOMYOSARCOMA (ERMS) IN A CHILD ASSOCIATED WITH SOS1 GENE DUPLICATION AND NOONAN-SPECTRUM-LIKE FEATURES
    Salem, Baheyeldin
    Rossi, Christopher
    Doros, Leslie
    Smpokou, Patroula
    PEDIATRIC BLOOD & CANCER, 2014, 61 : S73 - S73
  • [27] VAGINAL RHABDOMYOSARCOMA IN A PATIENT WITH NOONAN SYNDROME
    KHAN, S
    MCDOWELL, H
    UPADHYAYA, M
    FRYER, A
    JOURNAL OF MEDICAL GENETICS, 1995, 32 (09) : 743 - 745
  • [28] SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome
    Hanna, N.
    Parfait, B.
    Talaat, I. M.
    Vidaud, M.
    Elsedfy, H. H.
    CLINICAL GENETICS, 2009, 75 (06) : 568 - 571
  • [29] Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene
    Mercadante, Francesca
    Piro, Ettore
    Buse, Martina
    Salzano, Emanuela
    Ferrara, Arturo
    Serra, Gregorio
    Passarello, Cristina
    Corsello, Giovanni
    Piccione, Maria
    ITALIAN JOURNAL OF PEDIATRICS, 2022, 48 (01)
  • [30] Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene
    Francesca Mercadante
    Ettore Piro
    Martina Busè
    Emanuela Salzano
    Arturo Ferrara
    Gregorio Serra
    Cristina Passarello
    Giovanni Corsello
    Maria Piccione
    Italian Journal of Pediatrics, 48
12345