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What is Neurofibromomatosis I is - and explain in detail?
Ans. is 'a' i.e., AD o Neurofibromatosis (Type 1 and 2) are autosomal dominanto AD is the most common Mendelian pattern of inheritanceAutosomal dominant disordersa) Nervous system - Huntington disease, Neurofibromatosis (Type l and 2), Myotonic dystrophy, Facioscapulohumeral dystrophy Tuberous sclerosis Retinoblastomab) Urinary - Polycystic kidneyc) GIT - Familial polyposis coli, Gardner's syndrome Turcot's syndrome,Lynch syndrome, Peutz Jagher's syndrome, Juvenile polyposisd) Hematological - Heriditary sphero cytosis, Von-Willibrand diseasee) Skeletal - Marfan syndrome, EDS (some variant), Osteogenesisimperfecta, Achondroplasia Tuberous sclerosisf) Metabolic - Familial hypercholesterolemia, Acute intermittent porphyria