ANOPTHALMIA AND DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMOURS IN A FAMILY WITH NOONAN SYNDROME AND A NOVEL PTPN11 MUTATION

被引:0
|
作者
Mir, R. [1 ,2 ,3 ,4 ]
Chong, K. [1 ,2 ,3 ,4 ]
Benett, C. [1 ,2 ,3 ,4 ]
Aldin, A. [1 ,2 ,3 ,4 ]
Balen, F. [1 ,2 ,3 ,4 ]
Kraus, A. [1 ,2 ,3 ,4 ]
Taylor, R. [1 ,2 ,3 ,4 ]
机构
[1] Pinderfields Gen Hosp, Wakefield, England
[2] Leeds Gen Infirm, Leeds, W Yorkshire, England
[3] St George Hosp, London, England
[4] Great Ormond St Hosp Sick Children, London, England
来源
关键词
D O I
10.1136/jnnp.2010.226340.71
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:E35 / E35
页数:1
相关论文
共 50 条
  • [41] A novel PTPN11 gene mutation in a patient with LEOPARD syndrome
    Du-Thanh, Aurelie
    Cave, Helene
    Bessis, Didier
    Puso, Carine
    Guilhou, Jean-Jacques
    Dereure, Olivier
    ARCHIVES OF DERMATOLOGY, 2007, 143 (09) : 1210 - 1211
  • [42] PTPN11 mutations in Noonan syndrome and hydrops fetalis.
    Jones, JR
    Wood, TC
    Whalen, MA
    Haddock-Bolt, C
    Seaver, LH
    Schroer, RJ
    Rogers, RC
    Everman, DE
    Friez, MJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 579 - 579
  • [43] Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome
    Zepeda-Olmos, Paola Montserrat
    Esparza-Garcia, Eduardo
    Robles-Espinoza, Kiabeth
    Gonzalez-Garcia, Juan Ramon
    Gutierrez, Perla Graciela Rodriguez
    Magana-Torres, Maria Teresa
    GENES, 2024, 15 (11)
  • [44] High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome
    Ouboukss, Fatima
    Adadi, Najlae
    Amasdl, Saadia
    Smaili, Wiam
    Laarabi, Fatima Zahra
    Lyahyai, Jaber
    Sefiani, Abdelaziz
    Ratbi, Ilham
    JOURNAL OF APPLIED GENETICS, 2024, 65 (02) : 303 - 308
  • [45] Genomic Duplication of PTPN11 Is an Uncommon Cause of Noonan Syndrome
    Graham, John M., Jr.
    Kramer, Nancy
    Bejjani, Bassem A.
    Thiel, Christian T.
    Carta, Claudio
    Neri, Giovanni
    Tartaglia, Marco
    Zenker, Martin
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (10) : 2122 - 2128
  • [46] Analysis of PTPN11 mutations in Japanese patients with Noonan syndrome
    Namba, N
    Ogura, E
    Morishima, T
    Seino, Y
    Tanaka, H
    PEDIATRIC RESEARCH, 2004, 55 (04) : 160A - 160A
  • [47] Study of the PTPN11 gene in a group of patients with Noonan syndrome
    Lopez Canti, Luis Fernando
    Canete, Ramon
    del Valle, Cristobal Jorge
    Espino, Rafael
    Barrionuevo, Jose Luis
    Macias, Francisco
    Caro, Enrique
    Lechuga, Jose Luis
    Martinez Aedo, Maria Jose
    Lopez Siguerog, Juan Pedro
    Espigares, Rosa
    Espadero, Rosa Maria
    HORMONE RESEARCH, 2006, 65 : 25 - 26
  • [48] PTPN11 Mutation Associated with Aortic Dilation and Hypertrophic Cardiomyopathy in a Pediatric Patient with Noonan Syndrome
    Jefferies, John L.
    Belmont, John W.
    Pignatelli, Ricardo
    Towbin, Jeffrey A.
    Craigen, William J.
    PEDIATRIC CARDIOLOGY, 2010, 31 (01) : 114 - 116
  • [49] A Patient With LEOPARD Syndrome and PTPN11 Mutation
    Lehmann, Lorenz H.
    Schaeufele, Tim
    Buss, Sebastian J.
    Balanova, Maria
    Hartschuh, Wolfgang
    Ehlermann, Philipp
    Katus, Hugo A.
    CIRCULATION, 2009, 119 (09) : 1328 - 1329
  • [50] A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines LEOPARD syndrome and Noonan-like multiple giant cell lesion syndrome
    Sarkozy, A
    Obregon, MG
    Conti, E
    Esposito, G
    Mingarelli, R
    Pizzuti, A
    Dallapiccola, B
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2004, 12 (12) : 1069 - 1072