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Exome Testing Improves Diagnosis in Case of Individual Presenting With Overgrowth and Global Developmental Delay Carrying a 22q11.2 Proximal Duplication

ACMG 2020: Annual Clinical Genetics Meeting
Virtual [in-person conference canceled], March 17-21, 2020

Exome testing improves diagnosis in case of individual presenting with overgrowth and global developmental delay carrying a 22q11.2 proximal duplication
Authors: Hayes H, Karbassi I, Powis Z, Raval F, Owen R