Diagnostic Workup of Mosaicism in Children

IF 0.5
Francesca Besagni, Alessandra Gelmetti, Annalucia Virdi, Bianca Maria Piraccini, Iria Neri
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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.

Abstract Image

儿童马赛克病的诊断检查
镶嵌现象指的是一种变异事件的发生,导致同一个体内出现两个或多个不同的细胞群。这一贡献为皮肤嵌合症的儿科患者的诊断和评估提供了一种实用的方法,包括在鉴别诊断和基因检测技术的应用中区分其他疾病的线索。这是为了支持同事在遗传性皮肤病的临床实践操作。
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CiteScore
0.30
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