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Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically conf...

Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically conf...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9120382

Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia

About this item

Full title

Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia

Publisher

England: BMJ Publishing Group Ltd and British Thoracic Society

Journal title

Thorax, 2022-06, Vol.77 (6), p.628-630

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group Ltd and British Thoracic Society

More information

Scope and Contents

Contents

Pulmonary arteriovenous malformations (PAVMs) result in preventable complications demanding specialty care. Underlying hereditary haemorrhagic telangiectasia (HHT) can be identified by genetic testing, if the diagnosis is considered. Retrospectively reviewing 152 unrelated adults with genetically confirmed HHT due to ACVRL1, ENG or SMAD4, we found...

Alternative Titles

Full title

Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9120382

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9120382

Other Identifiers

ISSN

0040-6376

E-ISSN

1468-3296

DOI

10.1136/thoraxjnl-2021-218332

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