A Case of Patient with Rubinstein-Taybi Syndrome Type 2 with Complete Deletion of EP300 Gene and Complex Phenotype

被引:0
|
作者
Santoro, Elisa [1 ]
Marini, Romana [1 ]
Novelli, Antonio [2 ]
Alesi, Viola [2 ]
Dentici, Maria Lisa [3 ]
Cappa, Marco [1 ]
机构
[1] Bambino Gesu Childrens Hosp IRCCS, Dept Endocrinol & Diabet, Rome, Italy
[2] Bambino Gesu Childrens Hosp IRCCS, Med Genet Lab, Rome, Italy
[3] Bambino Gesu Childrens Hosp IRCCS, Med Genet Unit, Rome, Italy
来源
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P1-P816
引用
收藏
页码:452 / 453
页数:2
相关论文
共 50 条
  • [1] Further Case of Rubinstein-Taybi Syndrome Due to a Deletion in EP300
    Foley, Patricia
    Bunyan, David
    Stratton, John
    Dillon, Michelle
    Lynch, Sally Ann
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (05) : 997 - 1000
  • [2] Rubinstein-Taybi syndrome (CREBBP, EP300)
    van Belzen, Martine
    Bartsch, Oliver
    Lacombe, Didier
    Peters, Dorien J. M.
    Hennekam, Raoul C. M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (01) : 3 - 3
  • [3] Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome
    Zimmermann, Nicole
    Acosta, Ana Maria Bravo Ferrer
    Kohlhase, Juergen
    Bartsch, Oliver
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (08) : 837 - 842
  • [4] Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome
    Wild, K. Taylor
    Nomakuchi, Tomoki T.
    Sheppard, Sarah E.
    Leavens, Karla F.
    De Leon, Diva D.
    Zackai, Elaine H.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (04) : 1251 - 1255
  • [5] 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
  • [6] 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
  • [7] 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
  • [8] Rubinstein–Taybi syndrome (CREBBP, EP300)
    Martine van Belzen
    Oliver Bartsch
    Didier Lacombe
    Dorien J M Peters
    Raoul C M Hennekam
    European Journal of Human Genetics, 2011, 19 : 3 - 3
  • [9] 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
  • [10] 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