Gorlin Syndrome Associated With a Solitary Circumscribed Retinal Astrocytic Proliferation in a Pediatric Patient
Gorlin syndrome is a rare autosomal dominant disorder with near complete penetrance. The underlying genetic mechanism is a mutation in a tumor suppressor gene. Thus far, mutations in patched homolog 1 and 2 genes (PTCH1 and PTCH2) and the suppressor of fused gene (SUFU) have been identified. The syn...
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Bibliographische Detailangaben
| Veröffentlicht in: | Ophthalmic surgery, lasers & imaging retina. - 2013. - 53(2022), 9 vom: 15. Sept., Seite 514-516
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| 1. Verfasser: |
Lopez-Cañizares, Ashley
(VerfasserIn) |
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| Weitere Verfasser: |
Al-Khersan, Hasenin,
Carletti, Piero,
Shields, Carol L,
Berrocal, Audina M |
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| Format: | Online-Aufsatz
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| Sprache: | English |
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| Veröffentlicht: |
2022
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| Zugriff auf das übergeordnete Werk: | Ophthalmic surgery, lasers & imaging retina
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| Schlagworte: | Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Research Support, N.I.H., Extramural
Patched-1 Receptor |
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