... genotype-phenotype correlations, clinical manifestations at diagnosis, and the frequency of feminizing surgery in childhood. Methods: A nationwide retrospective cohort study of patients diagnosed with CAH, at the age of ≤18 years, between 1943 and 2018. CAH was identified in national registries...

... deficiency (21OHD) is an autosomal recessive disorder characterized by 3 overlapping phenotypes: salt-wasting (SW), simple virilizing (SV), and non-classic (NC). We aimed at conducting a nationwide genotype description of the CAH pediatric patients and to establish their genotype–phenotype correlation...

... of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Léri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation. Methods: We performed a retrospective multicenter study on French subjects...

.... β-Cell Congenital hyperinsulinism Genotype-phenotype correlation Hyperinsulinaemic hypoglycaemia One of the greatest challenges in the management of the severe forms of congenital hyperinsulinism (CHI) is to determine the histological type before surgical intervention. In focal CHI...

... hyperplasia, nonclassical Genotype-phenotype correlation Neuroblastoma •Most 21-hydroxylase-deficient patients are compound heterozygous and their phenotype reflects a less severe allelic mutation. •Discordance between genotype and phenotype have been observed. •Neuroblastoma has been...

... a genotype-phenotype correlation in Sotos syndrome, i.e. in patients with deletions, overgrowth is less obvious and mental retardation is more severe than in those with point mutations, and major anomalies were exclusively seen in the former. The results also indicated that Sotos syndrome due to a deletion...

...), and the R356W mutation (19.2% of the alleles). Two potentially novel mutations were discovered: (1) duplication of 111 bp from codon 21 to codon 57 (exon 1) and (2) missense mutation (L261P, exon 7). There was generally a good genotype-phenotype correlation, allowing accurate prediction of the disease severity...