A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans.
作者:
主题词
衔接蛋白质类, 信号转导(Adaptor Proteins, Signal Transducing);青少年(Adolescent);秃发(Alopecia);儿童(Child);儿童, 学龄前(Child, Preschool);近亲(Consanguinity);女(雌)性(Female);毛囊炎(Folliculitis);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);红斑狼疮, 盘状(Lupus Erythematosus, Discoid);男(雄)性(Male);系谱(Pedigree);蛋白质结合(Protein Binding);受体, 白细胞介素17(Receptors, Interleukin-17);序列分析, RNA(Sequence Analysis, RNA)
DOI
10.1111/cge.13767
PMID
32350852
发布时间
2022-12-07
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Clinical genetics
116-125页
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