Article

Expanding the genotypic and phenotypic landscape of ERG Deficiency Syndrome to include aortic/mitral valve insufficiency and aortic aneurysms

2026-05-28

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Germline heterozygous variants in the ETS transcription factor, <italic>ERG</italic> , cause “ERG deficiency syndrome”, characterised by bone marrow failure (BMF), haematological malignancy and primary lymphoedema predisposition. Given the recent discovery of ERG deficiency syndrome and the limited number of reported cases, the full phenotypic spectrum of t...

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Literature Corpus work: be71ad6c-3b4a-5846-b467-5829ff7612fd
DOI: 10.21203/rs.3.rs-9719377/v1

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