A case report on Rubinsein-Taybi syndrome associated with a de novo CREBBP gene mutation

被引：0
|
作者：
Li, Zheng [1 ]
Li, Zi-Jin [1 ]
Hao, Li-Hong [1 ]
机构：
[1] Tianjin Univ, Tianjin Childrens Hosp, Neonatal Intens Care Unit, Childrens Hosp, 225 Machang Rd, Tianjin 300134, Peoples R China
来源：
ASIAN JOURNAL OF SURGERY | 2024年 / 47卷 / 08期
关键词：
D O I：
10.1016/j.asjsur.2024.04.033
中图分类号：
R61 [外科手术学];
学科分类号：
摘要：
引用
收藏
页码：3684 / 3685
页数：2
相关论文
共 50 条
  • [1] A Case With Rubinstein-Taybi Syndrome: A Novel Frameshift Mutation in CREBBP Gene
    Eser, M.
    Ayaz, A.
    Yesil, G.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 961 - 961
  • [2] A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene
    Eser, Metin
    Ayaz, Akif
    Yesil, Gozde
    TURKISH JOURNAL OF PEDIATRICS, 2017, 59 (05) : 601 - 603
  • [3] Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report
    Kamenarova, Kunka
    Simeonov, Emil
    Tzveova, Reni
    Dacheva, Daniela
    Penkov, Mann
    Kremensky, Ivo
    Perenovska, Penka
    Mitev, Vanio
    Kaneva, Radka
    HUMAN PATHOLOGY, 2016, 47 (01) : 144 - 149
  • [4] First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene
    Wang, L.
    Deng, Y.
    Zhou, X. -L.
    Ma, J. J.
    Li, W.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2019, 44 (05) : e205 - e208
  • [5] Identification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome
    Ji, Qinghong
    Ma, Weihong
    Xin, Gang
    Xin, Qian
    Duan, Shuhong
    Ding, Mingxia
    Dong, Lihua
    Li, Zhiqiang
    Hong, Fanzhen
    PSYCHIATRIC GENETICS, 2025, 35 (01)
  • [6] Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
    Yang, Yang
    Xiao, Jing
    Ye, Yuanyuan
    Xiang, Jianwen
    Wang, Zhu
    Chen, Jia
    FRONTIERS IN PEDIATRICS, 2023, 11
  • [7] A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome
    Qian Wang
    Cong Wang
    Wen Bin Wei
    Wei Ning Rong
    Xiang Yu Shi
    BMC Medical Genomics, 15
  • [8] A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome
    Wang, Qian
    Wang, Cong
    Wei, Wen Bin
    Rong, Wei Ning
    Shi, Xiang Yu
    BMC MEDICAL GENOMICS, 2022, 15 (01)
  • [9] Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis:: a case report
    Balci, Sevim
    Erguen, Mehmet Ali
    Yueksel-Konuk, E. Berrin
    Bartsch, Oliver
    TURKISH JOURNAL OF PEDIATRICS, 2008, 50 (03) : 265 - 268
  • [10] Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation
    Yoo, Hee Jeong
    Kim, Kyung
    Kim, In Hyang
    Rho, Seong-Hwan
    Park, Jong-Eun
    Lee, Ki Young
    Kim, Soon Ae
    Choi, Byung Yoon
    Kim, Namshin
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2015, 16 (03): : 5697 - 5713
12345