The First Description of Monozygotic Twin Females Discordant for the Craniofrontonasal Syndrome Phenotype and the Report of Four Novel Pathogenic Variants in the EFNB1 Gene
semanticscholar（2021）
关键词
craniofrontonasal syndrome phenotype,efnb1 gene,monozygotic twin females discordant,four novel pathogenic variants
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