Rubinstein–Taybi syndrome (CREBBP, EP300)

被引:0
|
作者
Martine van Belzen
Oliver Bartsch
Didier Lacombe
Dorien J M Peters
Raoul C M Hennekam
机构
[1] Leiden University Medical Center,Department of Clinical Genetics
[2] Institute of Human Genetics,Department of Medical Genetics
[3] Medical Center Johannes Gutenberg University Mainz,Department of Human Genetics
[4] Bordeaux University Hospital,Department of Pediatrics
[5] Leiden University Medical Center,undefined
[6] Academic Medical Center,undefined
来源
关键词
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:3 / 3
相关论文
共 50 条
  • [31] Genetic heterogeneity in Rubinstein-Taybi syndrome:: Mutations in both the CBP and EP300 genes cause disease
    Roelfsema, JH
    White, SJ
    Ariyürek, Y
    Bartholdi, D
    Niedrist, D
    Papadia, F
    Bacino, CA
    den Dunnen, JT
    van Ommen, GJB
    Breuning, MH
    Hennekam, RC
    Peters, DJM
    AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (04) : 572 - 580
  • [32] A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency
    Saettini, Francesco
    Moratto, Daniele
    Grioni, Andrea
    Maitz, Silvia
    Iascone, Maria
    Rizzari, Carmelo
    Pavan, Fabio
    Spinelli, Marco
    Bettini, Laura Rachele
    Biondi, Andrea
    Badolato, Raffaele
    PEDIATRIC ALLERGY AND IMMUNOLOGY, 2018, 29 (07) : 776 - 781
  • [33] Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi Syndrome
    Bartsch, Oliver
    Labonte, Janette
    Albrecht, Beate
    Wieczorek, Dagmar
    Lechno, Stanislav
    Zechner, Ulrich
    Haaf, Thomas
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (01) : 181 - 184
  • [34] Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene
    Negri, G.
    Milani, D.
    Colapietro, P.
    Forzano, F.
    Della Monica, M.
    Rusconi, D.
    Consonni, L.
    Caffi, L. G.
    Finelli, P.
    Scarano, G.
    Magnani, C.
    Selicorni, A.
    Spena, S.
    Larizza, L.
    Gervasini, C.
    CLINICAL GENETICS, 2015, 87 (02) : 148 - 154
  • [35] A Case of Patient with Rubinstein-Taybi Syndrome Type 2 with Complete Deletion of EP300 Gene and Complex Phenotype
    Santoro, Elisa
    Marini, Romana
    Novelli, Antonio
    Alesi, Viola
    Dentici, Maria Lisa
    Cappa, Marco
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 452 - 453
  • [36] Exploitation of EP300 and CREBBP Lysine Acetyltransferases by Cancer
    Attar, Narsis
    Kurdistani, Siavash K.
    COLD SPRING HARBOR PERSPECTIVES IN MEDICINE, 2017, 7 (03):
  • [37] Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations
    Pavinato, Lisa
    Carestiato, Silvia
    Trajkova, Slavica
    Sorasio, Lorena
    Mantovani, Giovanna
    De Sanctis, Luisa
    Kerkhof, Jennifer
    Haley, Jessica
    Rzasa, Jessica
    Todd, Emily
    Balzo, Maria
    Cardaropoli, Simona
    Bruselles, Alessandro
    De Rubeis, Silvia
    Buxbaum, Joseph D.
    Tartaglia, Marco
    Sadikovic, Bekim
    Ferrero, Giovanni Battista
    Brusco, Alfredo
    CLINICAL GENETICS, 2025, 107 (03) : 354 - 358
  • [38] EP300基因变异致Rubinstein-Taybi综合征1例
    杨冰玉
    陈婷
    中华医学遗传学杂志, 2023, (03)
  • [39] Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
    Lopez, Maria
    Garcia-Oguiza, Alberto
    Armstrong, Judith
    Garcia-Cobaleda, Inmaculada
    Garcia-Minaur, Sixto
    Santos-Simarro, Fernando
    Seidel, Veronica
    Dominguez-Garrido, Elena
    BMC MEDICAL GENETICS, 2018, 19
  • [40] Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene
    Zhouxian Bai
    Gaopan Li
    Xiangdong Kong
    BMC Medical Genomics, 16