Severe developmental delay and complete agenesis of corpus callosum in a Noonan syndrome patient with SOS1 mutation

被引：0
|
作者：
Debopam Samanta
机构：
[1] University of Arkansas for Medical Sciences,Division of Child Neurology
来源：
Acta Neurologica Belgica | 2016年 / 116卷
关键词：
KRAS Mutation; Noonan Syndrome; Severe Developmental Delay; SOS1 Gene; Costello Syndrome;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：223 / 224
页数：1
相关论文
共 50 条
  • [1] Severe developmental delay and complete agenesis of corpus callosum in a Noonan syndrome patient with SOS1 mutation
    Samanta, Debopam
    ACTA NEUROLOGICA BELGICA, 2016, 116 (02) : 223 - 224
  • [2] EMBRYONAL RHABDOMYOSARCOMA IN A PATIENT WITH NOONAN SYNDROME AND A SOS1 GERMLINE MUTATION
    Jongmans, M.
    Hoogerbrugge, P.
    Hilkens, L.
    Flucke, U.
    van der Burgt, I.
    Noordam, K.
    Ruiterkam-Versteeg, M.
    Yntema, H.
    Nillesen, W.
    Ligtenberg, M.
    Geurts-van Kessel, A.
    Kuiper, R.
    Hoogerbrugge, N.
    CELLULAR ONCOLOGY, 2010, 32 (03) : 195 - 195
  • [3] A Further Patient with Noonan Syndrome Due to a SOS1 Mutation and Rhabdomyosarcoma
    Hastings, Rob
    Newbury-Ecob, Ruth
    Ng, Antony
    Taylor, Rohan
    GENES CHROMOSOMES & CANCER, 2010, 49 (10): : 967 - 968
  • [4] Severe Lymphatic Disorder Resolved With MEK Inhibition in a Patient With Noonan Syndrome and SOS1 Mutation
    Dori, Yoav
    Smith, Chris
    Pinto, Erin
    Snyder, Kristen
    March, Michael E.
    Hakonarson, Hakon
    Belasco, Jean
    PEDIATRICS, 2020, 146 (06)
  • [5] Pigmented Villonodular Synovitis in a Patient With Noonan Syndrome and SOS1 Gene Mutation
    Mascheroni, Elisabetta
    Digilio, M. Cristina
    Cortis, Elisabetta
    Devito, Rita
    Sarkozy, Anna
    Capolino, Rossella
    Dallapiccola, Bruno
    Ugazio, Alberto G.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (22) : 2966 - 2967
  • [6] Cognitive profile of a child with SOS1 mutation in Noonan syndrome
    Martinez Planello, A.
    Sotillo, M.
    Rodriguez-Santos, F.
    NEUROLOGIA, 2018, 33 (02): : 137 - 138
  • [7] Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation
    Lioncino, Michele
    Fusco, Adelaide
    Monda, Emanuele
    Colonna, Diego
    Sibilio, Michelina
    Caiazza, Martina
    Magri, Daniela
    Borrelli, Angela Carla
    D'Onofrio, Barbara
    Mazzella, Maria Luisa
    Colantuono, Rossella
    Arienzo, Maria Rosaria
    Sarubbi, Berardo
    Russo, Maria Giovanna
    Chello, Giovanni
    Limongelli, Giuseppe
    GENES, 2022, 13 (09)
  • [8] Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay
    Hizal, Mina
    Yeke, Batuhan
    Yildiz, Yilmaz
    Ozturk, Ali
    Gurbuz, Berrak Bilginer
    Coskun, Turgay
    TURKISH JOURNAL OF PEDIATRICS, 2020, 62 (03) : 474 - 478
  • [9] A case of Noonan Syndrome with coeliac disease due to SOS1 mutation
    Carcavilla Urqui, Atilano
    Santome Collazo, Jose Luis
    Barrio Castellanos, Raquel
    Ezquieta Zubicaray, Begona
    MEDICINA CLINICA, 2011, 137 (14): : 666 - 667
  • [10] Noonan Syndrome, the SOS1 Gene and Embryonal Rhabdomyosarcoma
    Jongmans, Marjolijn C. J.
    Hoogerbrugge, Peter M.
    Hilkens, Linda
    Flucke, Uta
    van der Burgt, Ineke
    Noordam, Kees
    Ruiterkamp-Versteeg, Martina
    Yntema, Helger G.
    Nillesen, Willy M.
    Ligtenberg, Marjolijn J. L.
    van Kessel, Ad Geurts
    Kuiper, Roland P.
    Hoogerbrugge, Nicoline
    GENES CHROMOSOMES & CANCER, 2010, 49 (07): : 635 - 641
12345