Tüm Tiplere DönOMIM #613829
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
Temel Klinik Özellikler
- 1Extensive clinical heterogeneity (including intrafamilial variability)
- 2Macular degeneration most prominent
- 3Can be autosomal dominant
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