Title: 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. 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
Authors: Socha M, Szoszkiewicz A, Simon D, Jamsheer A
Journal: Journal of Applied Genetics
Publication type: article
DOI: 10.1007/s13353-022-00743-7