Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5703360 | American Journal of Ophthalmology Case Reports | 2017 | 5 Pages |
Abstract
Although transfection studies with the p.Arg266Cys mutation have shown that this amino acid substitution is likely to impair function, non-penetrance for the ocular defects was apparent in this family and has been observed in other families with sequence variants in GDF3. We conclude p.Arg266Cys and other GDF3 mutations can be non-penetrant, making pathogenicity more difficult to establish when sequence variants in this gene are present in patients with structural eye defects.
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Ophthalmology
Authors
Tanya Bardakjian, Max Krall, Di Wu, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Sarina Kopinsky, Adele Schneider, Pui-yan Kwok, Anne Slavotinek,