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Joubert syndrome associated with unilateral ptosis and leber congenital amaurosis

โœ Scribed by Houdou, Sadataka; Ohno, Kousaku; Takashima, Sachio; Takeshita, Kenzo


Book ID
123363796
Publisher
Elsevier Science
Year
1986
Tongue
English
Weight
457 KB
Volume
2
Category
Article
ISSN
0887-8994

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Novel frameshift mutations in CRX associ
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Mutations in CRX, a photoreceptor-specific transcription factor, can cause Leber congenital amaurosis (LCA), cone-rod dystrophy (CORD), and retinitis pigmentosa (RP), all of which feature severe visual impairment. Upon screening 55 patients with Leber congenital amaurosis, 75 patients with cone-rod