系统性硬化症中表型特异性的嵌合性染色体异常:对疾病亚型与临床结局的启示

Phenotype-Specific Mosaic Chromosomal Alterations in Systemic Sclerosis: Implications for Disease Subtypes and Clinical Outcomes

This article explores the differential associations of mosaic chromosomal alterations (mCAs), especially chromosomal loss and mosaic loss of the X chromosome, with systemic sclerosis and its subtypes, revealing phenotype-specific genetic contributions that may influence clinical manifestations and disease onset.