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
Autors principals: Souzeau, Emmanuelle, Siggs, Owen M, Zhou, Tiger, Galanopoulos, Anna, Hodson, Trevor, Taranath, Deepa, Mills, Richard A, Landers, John, Pater, John, Smith, James E, Elder, James E, Rait, Julian L, Giles, Paul, Phakey, Vivek, Staffieri, Sandra E, Kearns, Lisa S, Dubowsky, Andrew, Mackey, David A, Hewitt, Alex W, Ruddle, Jonathan B, Burdon, Kathryn P, Craig, Jamie E
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
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Article
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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