De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability
Keywords: A4GNT; alpha-1,4-N-acetylglucosaminyltransferase; AGTR1; angiotensin II receptor, type 1; ATR; ataxia telangiectasia and Rad3 related; BAC; bacterial artificial chromosome; BFSP2; beaded filament structural protein 2; BPES; blepharophimosis, ptosis, and e