A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism—a case report and literature review of the partial 16p13.3 trisomy syndrome
Journal of Applied Genetics（2022）
关键词
16p13.3 duplication, Psychomotor retardation, Femoral hypoplasia, Partial 16p trisomy syndrome
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