. Author manuscript; available in PMC: 2014 Jan 3.

Published in final edited form as: Hum Mutat. 2013 Sep 16;34(12):10.1002/humu.22430. doi: 10.1002/humu.22430

Table 1.

Type and Number of NIPBL Mutations Identified in CdLS Probands

Mutation type	Number of mutations
Coding sequence mutations
Missense	67
Non sense	43
Deletions	71
Insertions	33
Indels	2
Noncoding sequence mutations
Splicing	43
Regulatory	2
Genomic rearrangements
Gross deletions	16
Translocation	1