Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Neurofibromatose 1

Die Neurofibromatose 1 (Von Recklinghausen-Erkrankung) wird durch Mutationen im NF1-Gen ausgelöst. Die Vererbung ist autosomal dominant. Die Erkrankung ist charakterisiert durch cafe-au-lait-Flecken, Iris-Hamartome, Achselflecken und multiple kutane Neurofibrome.

Gliederung

Neurofibromatose
Legius-Syndrom
Neurofibromatose 1
NF1
Neurofibromatose-Noonan-Syndrom
Spinale Form der Neurofibromatose
Watson-Syndrome

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