Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion

Parvathy Venugopal,Peer Arts,Lucy C. Fox,Annet Simons,Devendra K. Hiwase,Peter G Bardy, Annette Swift,David M. Ross, Lize F.D. van Vulpen,Arjan Buijs,Kelly L Bolton, Bartlomiej Getta,Eliska Furlong,Tina Carter,Ingrid Krapels, Marlijn Hoeks,Adila Al Kindy, Farah Al Kindy,Sonja de Munnik,Pamela Evans

Blood Advances（2024）

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摘要

In this MECOM-associated syndrome cohort, we describe a notable prevalence of somatic genetic rescue events and clonal hematopoiesis in carriers. We also observe a higher rate of pregnancy loss than the general population.

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