Objective To explore the genotype-phenotype correlation of facioscapulohumeral muscular dystrophy (FSHD) 1A gene.
目的探讨面肩肱型肌营养不良症(FSHD)1A的基因型与临床表型之间的相关关系。
Objective To perform gene diagnosis and summarize clinical features of facioscapulohumeral muscular dystrophy(FSHD)in order to improve its diagnosis.
目的对面肩肱型肌营养不良症(FSHD)患者进行基因诊断并总结其临床特征,以提高FSHD的诊断水平。
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