| Autor: |
Philip Alexander, Gregory S. Fincham, Senjah Brown, David Collins, Annie M. McNinch, Arabella V. Poulson, Allan Richards, Howard Martin, Nick Wareham, Martin P. Snead |
| Přispěvatelé: |
Snead, Martin P [0000-0003-0042-8659], Apollo - University of Cambridge Repository |
| Rok vydání: |
2023 |
| Předmět: |
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| DOI: |
10.17863/cam.96156 |
| Popis: |
The Stickler Syndromes are inherited conditions caused by abnormalities in structural proteins that are expressed in the eye, inner ear, and hyaline and elastic cartilage [1] and affect 1 in 7500 live births [2]. There are over 10 different subtypes but Type 1 Stickler syndrome due to pathogenic variants in COL2A1, the gene encoding type II collagen, accounts for 80% of all Stickler Syndrome cases, and represents the commonest cause of inherited and childhood retinal detachment [3]. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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