USMLE (Fach) / Biochemistry - Genetics (Lektion)

Vorderseite Neurofibromatosis
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- autosomal dominant

Neurofibromatosis type 1 = Recklinghausen disease- Mutation of the tumor suppressor gene NF1 located on chromosome 17- café-au-lait spots- peripheral neurofibromas- Lisch nodules (asymptomatic hamartomas of the iris)- freckling in the axilla, neck, groin and submammary regions- early age of onset- increased risk of meningeomas and pheochromocytoma

Neurofibromatosis type 2 = bilateral acoustic neurofibromatosis- Mutation of the tumor suppressor gene NF2 on chromosome 22- vestibular schwannomas- tinnitus, vertigo → deafness- late age of onset- increased risk of meningeoma and ependymomas

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