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Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.

作者信息

Shovlin Claire L, Almaghlouth Fatma I, Alsafi Ali, Coote Nicola, Rennie Catherine, Wallace Gillian Mf, Govani Fatima S, Research Consortium Genomics England

机构信息

National Heart and Lung Institute, Imperial College London, London, UK

Specialist Medicine, Imperial College Healthcare NHS Trust, London, UK.

出版信息

J Med Genet. 2024 Jan 19;61(2):182-185. doi: 10.1136/jmg-2023-109195.

DOI:10.1136/jmg-2023-109195
PMID:37586837
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10850674/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1b0/10850674/0643d18fd820/jmg-2023-109195f02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1b0/10850674/a114587e0ae2/jmg-2023-109195f01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1b0/10850674/0643d18fd820/jmg-2023-109195f02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1b0/10850674/a114587e0ae2/jmg-2023-109195f01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1b0/10850674/0643d18fd820/jmg-2023-109195f02.jpg

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本文引用的文献

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The UCSC Genome Browser database: 2023 update.UCSC 基因组浏览器数据库：2023 年更新。
Nucleic Acids Res. 2023 Jan 6;51(D1):D1188-D1195. doi: 10.1093/nar/gkac1072.
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3
Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia.
遗传性出血性毛细血管扩张症样儿童多发性肺动静脉畸形中内皮-间充质转化。
Int J Mol Sci. 2024 Jun 3;25(11):6163. doi: 10.3390/ijms25116163.
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J Clin Med. 2023 Dec 31;13(1):250. doi: 10.3390/jcm13010250.
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