Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.

CONCLUSION: Dysmorphism can be a phenotypic clue to pathogenic CNVs. Furthermore, pathogenic CNV might be more frequently found if patients have two or more clinical features in addition to DD/ID.
PMID: 29611406 [PubMed - in process]

Source: Yonsei Medical Journal - April 4, 2018 Category: Universities & Medical Training Authors: Kim HJ, Park CI, Lim JW, Lee GM, Cho E, Kim HJ Tags: Yonsei Med J Source Type: research