Molecular genetics of cone-rod dystrophy : loss of ADAM9 leads to cone-rod dystrophy; mutations in CNNM4 cause Jalili syndrome, consisting of cone-rod dystrophy and amelogenesis imperfecta

The term "cone-rod dystrophy" (CORD) describes a clinically heterogeneous group of progressive retinal dystrophies characterised by predominant or equal loss of cone compared to rod photoreceptors, reduced ' visual acuity, colour vision abnormalities, photophobia and visual field loss...

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Bibliographic Details
Main Author: Parry, David Alasdair
Published: University of Leeds 2011
Subjects:
Online Access:http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.555849

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