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Updated: Jun 26, 2025

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与Nicolaides-Baraitser综合征相关的SWI/SNF相关的SMARCA2基因突变:后续研究

Radharamadevi Akella1

  • 1Department of Pediatric Genetics, Rainbow Children's Hospital, Hyderabad, India.

Journal of pediatric genetics
|May 9, 2024
PubMed
概括

由SMARCA2基因突变引起的Nicolaides-Baraitser综合征,在一项新的案例研究中详细介绍. 在一个年轻男孩身上发现了一种新的de novo变异,有助于诊断和管理.

关键词:
尼古拉德斯 巴拉茨塞综合征这就是SMARCA2基因.在 SWI/SNF 中.在这种情况下,染色染色素

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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