Fig. 2From: Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese childrenGenetic characterization of the families with CdLS: a A heterozygous mosaic mutation (c.4321-1G > A) in NIPBL was found in p1. Her parents were absent from this mutation. b A heterozygous mutation (c.218C > A) in NIPBL was found in p2. His parents did not show this mutation. c A heterozygous deletion (c.1715delC) in CREBBP was found in p3 and was not detected in her parent and her health sisterBack to article page