ReviewJournal of applied genetics2023

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.

Magdalena Socha et al.PubMed ↗Full text ↗Publisher ↗

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