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Updated: May 11, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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血管艾勒斯·丹洛斯综合征和染色体2q32微删除综合征

Claire E Green1, Shadi Albaba2, Glenda J Sobey3

  • 1Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, OPD2, Northern General Hospital, Sheffield, UK. Claire.green13@nhs.net.

European journal of human genetics : EJHG
|April 17, 2025
PubMed
概括

染色体2q32中涉及COL3A1和COL5A2基因的间歇性缺失与埃勒斯·丹洛斯综合征 (EDS) 有关. 这项研究突出了血管EDS特征和Haploinsufficiency在COL3A1.1中的作用.

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