De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

被引：0

作者：

Xiaoyu Huang

Xue Rui

Shuang Zhang

Xiaolong Qi

Weining Rong

Xunlun Sheng

机构：

[1] Ningxia Medical University,Clinical Medical College

[2] Wenzhou Medical University,Eye Hospital, School of Optometry and Ophthalmology

[3] Ningxia Eye Hospital,Department of Ophthalmology

[4] People’s Hospital of Ningxia Hui Autonomous Region,undefined

[5] Third Clinical Medical College of Ningxia Medical University,undefined

[6] Gansu Aier Ophthalmology and Optometry Hospital,undefined

[7] Ningxia Eye Hospital,undefined

[8] People’s Hospital of Ningxia Hui Autonomous Region,undefined

[9] Third Clinical Medical College of Ningxia Medical University,undefined

[10] Gansu Aier Ophthalmology and Optometry Hospital,undefined

来源：

BMC Medical Genomics | / 16卷

关键词：

gene; Early onset high myopia; Phenotype; Rubinstein-Taybi syndrome 2;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

共 20 条

[1] De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
Huang, Xiaoyu
Rui, Xue
Zhang, Shuang
Qi, Xiaolong
Rong, Weining
Sheng, Xunlun
BMC MEDICAL GENOMICS, 2023, 16 (01)
[2] 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
[3] Novel heterozygous variants in the EP300 gene cause Rubinstein-Taybi syndrome 2: Reports from two Chinese children
Du, Caiqi
Li, Zhuoguang
Zou, Biao
Li, Xuesong
Chen, Fan
Liang, Yan
Luo, Xiaoping
Shu, Sainan
MOLECULAR GENETICS & GENOMIC MEDICINE, 2023, 11 (09):
[4] Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome
Nicole Zimmermann
Ana Maria Bravo Ferrer Acosta
Jürgen Kohlhase
Oliver Bartsch
European Journal of Human Genetics, 2007, 15 : 837 - 842
[5] 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
[6] 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
[7] 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
[8] Case report: a Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene
Bai, Zhouxian
Li, Gaopan
Kong, Xiangdong
BMC MEDICAL GENOMICS, 2023, 16 (01)
[9] Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Park, Jong Eun
Kim, Eunmi
Lee, Dong-Won
Park, Taek Kyu
Kim, Min Sun
Jang, Shin Yi
Ahn, Jaemyung
Park, Kwang Bo
Kim, Keon-Ha
Park, Hae-Chul
Ki, Chang-Seok
Kim, Duk-Kyung
SCIENTIFIC REPORTS, 2021, 11 (01)
[10] 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

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