NovelADAM9homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract
Author:
Publisher
BMJ
Subject
Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology
Reference17 articles.
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3. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy;Thiadens;Opthalmology,2012
4. A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1;Manes;BMC Med Genet,2011
5. Exome sequencing of 47 Chinese families with cone-rod dystrophy: mutations in 25 known causative genes;Huang;PLos ONE,2013
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1. Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies;Biomolecules;2023-02-01
2. Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder;Translational Vision Science & Technology;2020-05-11
3. NMNAT1 variants cause cone and cone-rod dystrophy;European Journal of Human Genetics;2017-11-28
4. Increased abundance of ADAM9 transcripts in the blood is associated with tissue damage;F1000Research;2016-10-24
5. Abundance of ADAM9 transcripts increases in the blood in response to tissue damage;F1000Research;2015-04-09
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