Rubinstein-Taybi综合征的分子遗传学基础

IF 3.2 4区医学 Q2 CLINICAL NEUROLOGY

Journal of neuromuscular diseases Pub Date : 2023-06-15 DOI:10.17650/2222-8721-2023-13-2-31-41

O. Ismagilova, T. Beskorovaynaya, T. Adyan, A. Polyakov

{"title":"Rubinstein-Taybi综合征的分子遗传学基础","authors":"O. Ismagilova, T. Beskorovaynaya, T. Adyan, A. Polyakov","doi":"10.17650/2222-8721-2023-13-2-31-41","DOIUrl":null,"url":null,"abstract":"Rubinstein–Taybi syndrome is a multisystem pathology characterized by mental retardation and delayed physical development in combination with a set of phenotypic features, which make up a recognizable pattern of the disease. This review of the literature highlights the molecular‑genetic basis and the presumed pathogenesis of the Rubinstein–Taybi syndrome, considers questions of geno‑phenotypic correlations and differential diagnosis in the group of pathologies called chromatinopathies.","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"40 1","pages":""},"PeriodicalIF":3.2000,"publicationDate":"2023-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Molecular-genetic basis of Rubinstein–Taybi syndrome\",\"authors\":\"O. Ismagilova, T. Beskorovaynaya, T. Adyan, A. Polyakov\",\"doi\":\"10.17650/2222-8721-2023-13-2-31-41\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Rubinstein–Taybi syndrome is a multisystem pathology characterized by mental retardation and delayed physical development in combination with a set of phenotypic features, which make up a recognizable pattern of the disease. This review of the literature highlights the molecular‑genetic basis and the presumed pathogenesis of the Rubinstein–Taybi syndrome, considers questions of geno‑phenotypic correlations and differential diagnosis in the group of pathologies called chromatinopathies.\",\"PeriodicalId\":16536,\"journal\":{\"name\":\"Journal of neuromuscular diseases\",\"volume\":\"40 1\",\"pages\":\"\"},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2023-06-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of neuromuscular diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.17650/2222-8721-2023-13-2-31-41\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of neuromuscular diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.17650/2222-8721-2023-13-2-31-41","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

摘要

Rubinstein-Taybi综合征是一种多系统病理，以智力迟钝和身体发育迟缓为特征，并结合一系列表型特征，构成了一种可识别的疾病模式。这篇文献综述强调了Rubinstein-Taybi综合征的分子遗传学基础和假定的发病机制，考虑了基因表型相关性和色质病变病理组的鉴别诊断问题。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Molecular-genetic basis of Rubinstein–Taybi syndrome

Rubinstein–Taybi syndrome is a multisystem pathology characterized by mental retardation and delayed physical development in combination with a set of phenotypic features, which make up a recognizable pattern of the disease. This review of the literature highlights the molecular‑genetic basis and the presumed pathogenesis of the Rubinstein–Taybi syndrome, considers questions of geno‑phenotypic correlations and differential diagnosis in the group of pathologies called chromatinopathies.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Journal of neuromuscular diseases Medicine-Neurology (clinical)

CiteScore

5.10

自引率

6.10%

发文量

102

期刊介绍： The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.