Article

Endothelial defects unveil cardiovascular phenotype in iPSC-based disease modelling across three generations of a DiGeorge syndrome family

2025-09-18

Abstract excerpt

<title>Abstract</title> <p>Aims DiGeorge syndrome (DGS) due to 22q11.2 microdeletion is characterized by a high degree of phenotypic variability. This study aimed to elucidate the molecular and cellular mechanisms underlying this variability and exacerbation of cardiovascular manifestations by developing a human induced pluripotent stem cell (hiPSC)-based model using a three-generation family. Methods and results...

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Literature Corpus work: ad530b41-2761-568c-8da3-de013c30dfaa
DOI: 10.21203/rs.3.rs-7141852/v2

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