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pro vyhledávání: '"Nixon, Thomas RW"'
Publikováno v:
In Progress in Retinal and Eye Research November 2024 103
Autor:
Maghsoudi, Daniel, Nixon, Thomas RW, Martin, Howard, Richards, Allan J, McNinch, Annie M, Alexander, Philip, Poulson, Arabella V, Snead, Martin P
Publikováno v:
Eye; 20240101, Issue: Preprints p1-6, 6p
Stickler syndrome (SS) is a genetic disorder with manifestations in the eye, ear, joints, face and palate. Usually inherited in a dominant fashion due to heterozygous pathogenic variants in the collagen genes COL2A1 and COL11A1, it can rarely be inhe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8533c3493b093f4084652bd369f02b7
https://www.repository.cam.ac.uk/handle/1810/339056
https://www.repository.cam.ac.uk/handle/1810/339056
Autor:
Nixon, Thomas RW, Richards, Allan, Towns, Laura K, Fuller, Gavin, Abbs, Stephen, Alexander, Philip, McNinch, Annie, Sandford, Richard N, Snead, Martin P
Stickler syndrome is a genetic disorder that can lead to joint problems, hearing difficulties and retinal detachment. Genes encoding collagen types II, IX and XI are usually responsible, but some families have no causal variant identified. We investi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::589241df7a4821e91ae56849cbb6a449