Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes

PURPOSE: To investigate the phenotypic variability of patients bearing the heterozygous R124H mutation in the TGFBI (transforming growth factor-beta-induced) gene that causes granular corneal dystrophy type 2 (GCD2). METHODS: We describe the phenotypic range of GCD2 heterozygotes for the common R124...

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Bibliographic Details
Main Authors: Han, Kyung Eun, Choi, Seung-il, Chung, Woo Suk, Jung, Se Hwan, Katsanis, Nicholas, Kim, Tae-im, Kim, Eung Kweon
Format: Artigo
Language:Inglês
Published: Molecular Vision 2012
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3398492/
https://ncbi.nlm.nih.gov/pubmed/22815629
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