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Flashcards in Cytoskeleton Deck (62)
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61

What is wiskott-aldrich syndrome? (WAS)

rare x linked immunodeficiency
- result of WASp mutations
SX: throbyocytopenia (low platelet # & size)
- recurrent infections

defective lamellipodia/ platelet formation
macrophages, neutrophil leukocytes are migration & chmotaxix deficient

62

What is lissencephaly?

Defect in brain development:
- no gyri -> smooth surface
- improper neuronal migration
- loss of function of n-cofilin
- severe mental retardation