Neurofibromatose Typ 1 mit Noonan-Syndrom ist eine autosomal dominante Erkrankung durch NF1-Mutationen ausgelöst. Es ist eine Variante der Neurofibromatose, die zusätzlich zu den Cafe-au-lait-Flecken und den Neurofibromen körperliche Zeichen des Noonan-Syndroms aufweist.
Cafe-au-lait-Flecke | |
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Bei diesem Typ der Neurofibromatose sind die Cafe-au-lait-Flecken zusätzlich mit körperlichen Fehlbildungen wie beim Noonan-Syndrom assoziiert. |
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