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Syndromes > Neural > Flashcards

Neural Flashcards

1
Q

NF1 (von Reckling Hausen’s) gene mutation

A

NF1 gene

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2
Q

NF1 clinical features

A 
Cafe au lait spots
Axillary/inguinal freckling
Multiple neurofibromas, risk of MPNST
Plexiform neurofibromas
Optic glioma
Iris hamartoma (Lisch nodules)
Sphenoid dysplasia, long bone cortical thinning
Pheochromocytoma
Ganglioneuroma, neuroblastoma
GIST
Carcinoids
Wilm's
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3
Q

NF2 gene mutation

A

Merlin

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4
Q

NF2 clinical features

A

Bilateral vestibular Schwannomas
Meningiomas
Glial tumours
Cataracts

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Syndromes (6 decks)

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