Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability.
Sepideh MehvariFarzaneh LartiHao HuZohreh FattahiMaryam BeheshtianSeyedeh Sedigheh AbediniSanaz ArzhangiHans-Hilger RopersVera M KalscheuerDaniel AuldKimia KahriziYasser RiazalhosseiniHossein NajmabadiPublished in: Molecular genetics & genomic medicine (2020)
Our report indicates that CNVs should be considered in multi-affected families where no candidate gene defect has been identified in sequencing data analysis.