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PLoS ONE, ISSN 1932-6203, 07/2013, Volume 8, Issue 7, pp. e67546 - e67546
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 03/2019, Volume 40, Issue 2, pp. 91 - 98
Background: Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal... 
corneal dystrophy | Harboyan | CDPD | SLC4A11 gene | Endothelium
Journal Article
Journal Article
Journal Article
Journal Article
Journal Article
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 07/2019, Volume 60, Issue 8, pp. 3084 - 3090
PURPOSE. To report molecular genetic findings in six probands with congenital hereditary endothelial dystrophy (CHED) variably associated with hearing loss... 
MUTATION ANALYSIS | PHENOTYPE | SLC4A11 | congenital hereditary endothelial dystrophy | corneal endothelial-like cells model | IDENTIFICATION | PLURIPOTENT STEM-CELLS | MUTANTS | GENE | DYSTROPHY | OPHTHALMOLOGY | induced pluripotent stem cells | GENERATION
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2012, Volume 7, Issue 10, pp. e46742 - e46742
Journal Article