| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5907031 | Gene | 2012 | 4 Pages |
Abstract
⺠Brittle cornea syndrome (BCS) is genetically heterogeneous. ⺠Extraocular manifestations of BCS are variable. ⺠We report a novel ZNF469 mutation with severe extraocular phenotype. ⺠Overlap between BCS and Ehler-Danlos syndrome is discussed.
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Genetics
Authors
Mohammed Al-Owain, Mohammed S. Al-Dosari, Asma Sunker, Taghreed Shuaib, Fowzan S. Alkuraya,