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Updated: Jun 27, 2025

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
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与ERCC6相关的可卡因综合征 (B型) 的频谱:从轻度到严重的形式

Jacopo Sartorelli1, Lorena Travaglini2, Marina Macchiaiolo3

  • 1Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.

Genes
|April 27, 2024
PubMed
概括

卡凯恩综合征B型 (CSB) 显示出显著的临床变异性,即使具有相同的ERCC6基因突变. 血清神经纤维光链 (sNFL) 水平可以作为生物标志物,反映CSB患者的疾病严重程度.

关键词:
过敏性过敏症 (ataxia) 是一种导致过敏性过敏的疾病.小粒细胞的低成形.基因型表型 基因型表型低叶黄化 (hypomyelination) 是一种低叶黄化.患有白血病的病例包括白血病.神经纤维光链的光链.

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