Antonie D. Kline

TL;DR: The authors' data indicate that SMC3 and SMC1A mutations contribute to approximately 5% of cases of CdLS, result in a consistently mild phenotype with absence of major structural anomalies typically associated with Cd LS, and in some instances, result with a phenotype that approaches that of apparently nonsyndromic mental retardation.

TL;DR: A higher proportion of patients affected mildly with the syndrome than is commonly appreciated is demonstrated, which underscores the importance of early recognition and appropriate medical and developmental support.

TL;DR: The spectrum and distribution of NIPBL mutations in a large well-characterized cohort of individuals with Cornelia de Lange syndrome suggested a trend toward a milder phenotype in individuals with missense mutations than in those with other types of mutations.

TL;DR: A clinical overview and recommendations for anticipatory guidance are timely in aiding caretakers and professionals to individualize care decisions and maximize developmental potential for individuals with CdLS.

TL;DR: A consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway is demonstrated, and a differential effect by gender is shown, possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDx3X mutations.