... with a collective prevalence of 1:1,000, and overlaps the most with Costello syndrome (CS; OMIM #214080) and Noonan syndrome (NS; OMIM #163950) [Pierpont et al., 2014]. Chromosomal microarray analysis showed no copy number abnormality. She was referred to the genetics clinic at 6 months of age for further...

...Dogus Vuralli; Can Kosukcu; Ekim Taskiran; Pelin Ozlem Simsek-Kiper; Gulen Eda Utine; Koray Boduroglu; Ayfer Alikasifoglu; Mehmet Alikasifoglu Several endocrine disorders have been defined in patients with Costello syndrome (CS). In this report, we describe a patient with CS accompanied...

... represented the most recurrent features occurring in subjects with cardiofaciocutaneous syndrome and Costello syndrome. Thin hair was prevalent among SHOC2 and BRAF mutation-positive infants. Café-au-lait spots were found in patients with LS and PTPN11 mutations, while keratosis pilaris was more common...

... characterizing NS and related conditions can be ascribed, in part, to the gene mutated and even the specific molecular lesion involved. Cardiofaciocutaneous syndrome Costello syndrome Genotype-phenotype correlations LEOPARD syndrome Molecular basis of disease Molecular epidemiology Mutation analysis...