Case Report: Identification of Facioscapulohumeral Muscular Dystrophy 1 in Two Siblings with Normal Phenotypic Parents Using Optical Genome Mapping
FRONTIERS IN NEUROLOGY（2024）
关键词
facioscapulohumeral muscular dystrophy 1,optical genome mapping,sibling patient,low-level mosaicism,germline mosaicism,disease penetrance,molecular diagnosis,methylation analysis
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