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WhatIsLCA
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LCA7

CRX

Cone-rod homeobox transcription factor; critical for photoreceptor differentiation

Henüz Hedefli Tedavi Yok

Kromozomal Lokus

19q13.33

Kalıtım

Otozomal Dominant

Sıklık

~1% LCA vakalarının

OMIM #613829

Temel Klinik Özellikler

  • 1Extensive clinical heterogeneity (including intrafamilial variability)
  • 2Macular degeneration most prominent
  • 3Can be autosomal dominant

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