Comprehensive Review and Expanding the Genetic Landscape of Cornelia-de-Lange Spectrum: Insights from Novel Mutations and Skin Biopsy in Exome-Negative Cases
BMC Medical Genomics（2024）
关键词
Cornelia de Lange Syndrome (CdLS),Whole exome sequencing,Novel variant,NIPBL gene,SMC1A gene,Mosaicism,Exome-negative
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