Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract

Faculty Medicine Year: 2014
Type of Publication: ZU Hosted Pages:
Authors:
Wael Mohamed Osman Elhaig
Journal: British Journal of Ophthalmology BMJ Publishing Group (United Kingdom) Volume:
Keywords : Novel ADAM9 homozygous mutation , , consanguineous Egyptian    
Abstract:
OBJECTIVE: To genetically and phenotypically describe a new ADAM9 homozygous mutation in a consanguineous family from Egypt with autosomal recessive cone-rod dystrophy (arCRD), anterior polar and posterior subcapsular cataract. DESIG
    
     
 
       

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  • Wael Mohamed Osman Elhaig, "Effect of partial retinal destruction and gliosis on the intravitreal pharmacokinetics of HPMPC", Wolters and Kluwer, 1995 More

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