“…However, these cases are mild, in comparison to the autosomal dominant cases, and do not present with limb abnormalities. Yan et al, 2006) Forty to 56% of individuals with CdLS who had DNA analysis for the NIPBL gene were found to have mutations in the NIPBL gene located at 5p13 (Gillis et al, 2004;Yan et al, 2006) and encoding the protein delangin (Krantz et al, 2004;Yan et al, 2006;Kline et al, 2007a). Genotype phenotype correlation has not been very informative in CdLS; however, it seems that truncating lesions result in more severe phenotype (Selicorni et al, 2007).…”