A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss
Mutations in CEP78 lead to abnormal production of cilia and have previously been identified to cause cone-rod dystrophy (CRD) with progressive sensorineural hearing loss. The authors describe a case of cone dystrophy (CD) with sensorineural hearing loss in a variant that had previously been reported...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Ophthalmic surgery, lasers & imaging retina. - 2013. - 55(2024), 12 vom: 01. Dez., Seite 742-746
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| 1. Verfasser: |
Faruque, Promie R
(VerfasserIn) |
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| Weitere Verfasser: |
Hou, Baichun,
Oh, Jin Kyun,
Tsang, Stephen H |
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| Format: | Online-Aufsatz
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| Sprache: | English |
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| Veröffentlicht: |
2024
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| Zugriff auf das übergeordnete Werk: | Ophthalmic surgery, lasers & imaging retina
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| Schlagworte: | Case Reports
Journal Article
Cell Cycle Proteins
CEP78 protein, human |
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