Skip to main content
Fig. 1 | BMC Medical Genomics

Fig. 1

From: Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases

Fig. 1

Overview of cohesin-NIPBLC -DNA complex base on PDB 6WGE. The protein is coloured by protein. SMC1, SMC3, RAD21, NIPBL, and DNA are colored Blue, yellow, purple, green, and cyan, respectively. Left arrows show structure of normal human cohesin bound to the NIPBLC and left arrows shows the structure of NIPBLC with p.Met2178Ilefs*8 mutation in the complex. NIPBLC= C-terminal HEAT repeat domain of NIPBL

Back to article page

BMC Medical Genomics

ISSN: 1755-8794

Contact us