TOPICS: Hypertrophic cardiomyopathy, Huntington disease, acute intermittent porphyria, von Hippel-Lindau disease, familial adenomatous polyposis, autosomal dominant polycystic kidney disease, hereditary spherocytosis, achondroplasia, Li-Fraumeni syndrome, von Willebrand disease, familial hypercholesterolemia, tuberous sclerosis, hereditary hemorrhagic telangiectasia, Marfan syndrome, neurofibromatosis type I, neurofibromatosis type II, multiple endocrine neoplasias, osteogenesis imperfecta, myotonic muscular dystrophy, fibroblast growth factor receptor 3 (FGFR3) mutation, porphobilinogen deaminase, NF1 gene mutation on chromosome 17, VHL gene mutation on chromosome 3, chondrocyte proliferation, dwarfism, urine porphobilinogen, neurofibromas, cafe-au-lait spots, pheochromocytomas, optic gliomas, hamartomas, renal cell carcinoma, hemangioblastomas, penetrance, expression, heme synthesis
