Clinical and molecular analysis of RASopathies in a group of Turkish patients

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati–Engelmann disease: A single case observation

Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's disease

Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features