Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings

CONCLUSIONS: In this study, chromosomal microarray analysis revealed pathogenic de novo copy number variants with new clinical features. Chromosomal microarray analysis in the Turkish population has been reported in the largest patient cohort to date.PMID:38664339 | DOI:10.1007/s11033-024-09545-y
Source: Molecular Biology Reports - Category: Molecular Biology Authors: Source Type: research