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Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants
Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber of the eye and a range of systemic features. Approximately half of all affected individuals will develop glaucoma, but the age at diagnosis and the phenotypic spectru...
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| Publicat a: | Eur J Hum Genet |
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| Autors principals: | , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5520071/ https://ncbi.nlm.nih.gov/pubmed/28513611 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.59 |
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