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Four patients with NS/LAH had mutation in SHOC2 gene. Nine CFC patients had BRAF mutations and one had KRAS mutation. Four NS with multiple lentigines patients had PTPN11 mutation. All observed mutations were previously described and associated with NS and/or NLS. Patients were evaluated following standard protocol and no children had signs of malnutrition. PCR and sequence analysis were performed for all coding exons of PTPN11, SOS1, KRAS, and BRAF. Evaluation of PTPN11, SOS1, and KRAS genes were conducted according to previous published CGK 733 protocols [Ferreira et al., 2005; Brasil et al., 2010a, b]. For the RAF1 gene, PCR and sequence analysis focused on exons 7, 14, and 17, described as hotspot regions [Pandit et al., 2007; Ko et al., 2008]. Sequence analysis of SHOC2 gene focused on exon 2 where a substitution of a glycine for serine at position 2 (p.Ser2Gly) check details has been described [Cordeddu et al., 2009]. Sex-specific centile curves for height, weight, and BMI were constructed using the lambda, mu, and sigma (LMS) method by the Growth Analyser software Version 3.5 (Ed. Dutch Growth Foundation, Rotterdam, Netherlands). This method is based on the principle that anthropometric data can be converted to a standard normal distribution by a Box-Cox transformation for any given age [Cole and Green, 1992]. To achieve this transformation, three smoothed age-related curves are used, namely the median curve (M curve), the coefficient of variation of the measurement as it changes with age (S curve), and the Box-Cox power needed at each age to convert the data to a Gaussian distribution (L curve). A table of corresponding smoothed L, M, and S values is accessible and these values can be used to calculate any required centile or SDS curve using a simple formula that involves the L, M, and S values at any given age [Cole and Green, 1992]. All data were recorded on a computer database and analyzed using SigmaStat version 3.5 (Systat Software Inc. Chicago, IL). Genotype-group comparisons were made by one-way ANOVA followed by post hoc Tukey test for multiple comparisons, as appropriate. A P-value Sorafenib ic50 were born preterm for unknown reasons. NS and NLS patients had normal birth weight (3,144?��?597?g, corresponding to 0.2?��?1.6 SDS), although the birth length was slightly compromised (48.0?��?3.0?cm, corresponding to ?1.1?��?1.4 SDS). One hundred twenty-five out of 137 patients were evaluated during their growth period, resulting in 536 observations (mean of 4.3 measurements per patient). Patients carrying PTPN11 mutations contribute for 63?��?10% of all measurements in each age. The other genotypes contributed in each age group similarly.