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Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report

机译：沙特男孩的鲁宾斯坦-塔比综合征（Rubinstein-Taybi syndrome）：CREBBP和EP300基因均具有明显特征和变异：一例病例报告

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摘要

BackgroundRubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism.

机译：背景1型鲁宾斯坦-塔比综合征（RSTS）（OMIM 180849）具有三个主要特征：智力残疾；宽阔且经常弯曲的拇指和幻觉；和特征性的面部畸形。

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期刊名称 BMC Medical Genetics
作者
Mohammad M. Al-Qattan; Abdulaziz Jarman; Atif Rafique; Zuhair N. Al-Hassnan; Heba M. Al-Qattan;
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作者单位

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年(卷),期 2019(20),-1
年度 2019
页码 12
总页数 6
原文格式 PDF
正文语种
中图分类遗传学;
关键词
Rubinstein-Taybi syndrome CREBBP EP300;

机译：Rubinstein-Taybi综合征;CREBBP;EP300;

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专利

1. Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report [J] . Mohammad M. Al-Qattan, Abdulaziz Jarman, Atif Rafique, BMC Medical Genetics . 2019,第1期

机译：一名沙特男孩的鲁宾斯坦-塔比综合症，其CREBBP和EP300基因均具有明显特征和变异：一例
2. Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells [J] . Carcinogenesis . 2020,第3期

机译：CREBBP和EP300基因的突变影响鲁宾斯坦-Taybi综合征细胞中氧化损伤的DNA修复
3. Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. [J] . Tsai AC, J Dossett C, Walton CS, European journal of human genetics: EJHG . 2011,第1期

机译：通过aCGH检测到的两名Rubinstein-Taybi综合征儿童的EP300和CREBBP基因外显子缺失。
4. Genetic variant analysis of boys with Autism: A pilot study on linking facial phenotype to genotype [C] . Tayo Obafemi-Ajayi, Luke Settles, Yuqing Su, IEEE International Conference on Bioinformatics and Biomedicine . 2017

机译：自闭症男孩的遗传变异分析：将面部表型与基因型联系起来的初步研究
5. Allelic variants alter distinct stages of SLE pathogenesis in the CD45E613R murine model of SLE. [D] . Ruck, Melissa Ann. 2016

机译：等位基因变异改变SLE的CD45E613R鼠模型中SLE发病机制的不同阶段。
6. Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4 DNASE1 TRAP1 and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy [O] . Mohammad M. Al-Qattan, Zuhair A. Rahbeeni, Zuhair N. Al-Hassnan, 2020

机译：染色体16p13.3连续基因缺失综合征包括SLX4DNASE1TRAP1和CREBBP基因表现为相对轻度的鲁宾斯坦-泰比综合征表型：一个沙特男孩的病例报告
7. Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy [O] . Mohammad M. Al-Qattan, Zuhair A. Rahbeeni, Zuhair N. Al-Hassnan, 2020

机译：染色体16P13.3连续基因缺失综合征，包括SLX4，DNASE1，TRAP1和CREBBP基因作为相对温和的鲁比斯坦-Taybi综合征表型：沙特男孩的病例报告

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report

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