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
  • [21] An atypical Rubinstein-Taybi syndrome 2 associated with EP300 exon 20 skipping
    Carestiato, Silvia
    Pavinato, Lisa
    Sorasio, Lorena
    Cardaropoli, Simona
    Todd, Emily
    Bruselles, Alessandro
    De Rubeis, Silvia
    Buxbaum, Joseph
    Tartaglia, Marco
    Ferrero, Giovanni Battista
    Brusco, Alfredo
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 455 - 455
  • [22] A novel EP300 mutation associated with Rubinstein-Taybi syndrome presenting as combined immunodeficiency
    Saettini, Francesco
    Moratto, Daniele
    Grioni, Andrea
    Biondi, Andrea
    Badolato, Raffaele
    JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (03) : 336 - 337
  • [23] EP300 MUTATIONS IN A MOTHER AND SON WITH RUBINSTEIN-TAYBI SYNDROME AND GROWTH HORMONE DEFICIENCY
    Gucev, Z.
    Tasic, V.
    Karanfilska, D. Plaseska
    Polenakovic, M.
    EUROPEAN JOURNAL OF PEDIATRICS, 2016, 175 (11) : 1789 - 1789
  • [24] Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations
    Fergelot, Patricia
    Van Belzen, Martine
    Van Gils, Julien
    Afenjar, Alexandra
    Armour, Christine M.
    Arveiler, Benoit
    Beets, Lex
    Burglen, Lydie
    Busa, Tiffany
    Collet, Marie
    Deforges, Julie
    de Vries, Bert B. A.
    Dominguez Garrido, Elena
    Dorison, Nathalie
    Dupont, Juliette
    Francannet, Christine
    Garcia-Minaur, Sixto
    Gabau Vila, Elisabeth
    Gebre-Medhin, Samuel
    Gener Querol, Blanca
    Genevieve, David
    Gerard, Marion
    Gervasini, Cristina Giovanna
    Goldenberg, Alice
    Josifova, Dragana
    Lachlan, Katherine
    Maas, Saskia
    Maranda, Bruno
    Moilanen, Jukka S.
    Nordgren, Ann
    Parent, Philippe
    Rankin, Julia
    Reardon, Willie
    Rio, Marlene
    Roume, Joelle
    Shaw, Adam
    Smigiel, Robert
    Sojo, Amaia
    Solomon, Benjamin
    Stembalska, Agnieszka
    Stumpel, Constance
    Suarez, Francisco
    Terhal, Paulien
    Thomas, Simon
    Touraine, Renaud
    Verloes, Alain
    Vincent-Delorme, Catherine
    Wincent, Josephine
    Peters, Dorien J. M.
    Bartsch, Oliver
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (12) : 3069 - 3082
  • [25] Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence Reply
    Tamhankar, Parag M.
    Merchant, Rashid
    INDIAN JOURNAL OF PEDIATRICS, 2017, 84 (01): : 92 - 92
  • [26] Paralogous annotation of disease-causing variants and somatic mutations in CREBBP/EP300 can improve variant interpretation in Rubinstein-Taybi syndrome
    Codina, Marta
    Campos, Berta
    Valenzuela Palafoll, Irene
    Fernandez, Paula
    Cueto-Gonzalez, Anna Maria
    Lasa-Aranzasti, Amaia
    Trujillano, Laura
    Leno, Jordi
    Garcia-Arumi, Elena
    Tizzano, Eduardo
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 189 - 189
  • [27] Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype
    Saettini, Francesco
    Fazio, Grazia
    Bonati, Maria Teresa
    Moratto, Daniele
    Massa, Valentina
    Di Fede, Elisabetta
    Castiglioni, Silvia
    Marchetti, Daniela
    Chiarini, Marco
    Sottini, Alessandra
    Iascone, Maria
    Cazzaniga, Giovanni
    Imberti, Luisa
    Biondi, Andrea
    Gervasini, Cristina
    Badolato, Raffaele
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (07) : 2129 - 2134
  • [28] First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
    Lopez, Maria
    Seidel, Veronica
    Santibanez, Paula
    Cervera-Acedo, Cristina
    Castro-de Castro, Pedro
    Dominguez-Garrido, Elena
    BMC MEDICAL GENETICS, 2016, 17
  • [29] Rubinstein-Taybi because of a novel EP300 mutation with novel clinical findings
    Jagla, Mateusz
    Tomasik, Tomasz B.
    Czyz, Ola
    Krol, Mateusz
    van Houdt, Jeroen K. J.
    Kwinta, Przemko
    Nowakowska, Beata A.
    CLINICAL DYSMORPHOLOGY, 2017, 26 (03) : 170 - 174
  • [30] Genetic heterogeneity in Rubinstein-Taybi syndrome:: delineation of the phenotype of the first patients carrying mutations in EP300
    Bartholdi, Deborah
    Roelfsema, Jeroen H.
    Papadia, Francesco
    Breuning, Martijn H.
    Niedrist, Dunja
    Hennekam, Raoul C.
    Schinzel, Albert
    Peters, Dorien J. M.
    JOURNAL OF MEDICAL GENETICS, 2007, 44 (05) : 327 - 333