Article

Status of children and caregivers with Bloom syndrome and Rothmund–Thomson syndrome in Japan

2025-08-13

Abstract excerpt

<title>Abstract</title> <p>Bloom syndrome (BS) and Rothmund–Thomson syndrome (RTS) are caused by pathogenetic variants in the <italic>BLM</italic> and <italic>RECQL4</italic> genes, which belong to the RecQ helicase family. BS is characterized by short stature, sun-sensitive erythema, immunodeficiency, and a predisposition to various malignancies. RTS is characterized by poikiloderma, bone malformations, and a pr...

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Literature Corpus work: 8d61018d-114a-5f9f-8e63-fc77be8b435c
DOI: 10.21203/rs.3.rs-7260291/v1

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