Diagnostic Workup of Mosaicism in Children

ABSTRACT Mosaicism refers to a phenomenon in which a variant event occurs, resulting in two or more different cell populations within the same individual. This contribution provides a practical approach to the diagnosis and evaluation of paediatric patients with cutaneous mosaicisms, including clues...

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Bibliographic Details
Main Authors: Francesca Besagni, Alessandra Gelmetti, Annalucia Virdi, Bianca Maria Piraccini, Iria Neri
Format: Article
Language:English
Published: Wiley 2025-08-01
Series:JEADV Clinical Practice
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Online Access:https://doi.org/10.1002/jvc2.70077
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Summary:ABSTRACT Mosaicism refers to a phenomenon in which a variant event occurs, resulting in two or more different cell populations within the same individual. This contribution provides a practical approach to the diagnosis and evaluation of paediatric patients with cutaneous mosaicisms, including clues to distinguish other conditions in the differential diagnosis and applications of advances in genetic testing technology. This is aimed at supporting colleagues operating in genodermatosis clinical practice.
ISSN:2768-6566