Cargando…
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...
Autores principales: | 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 |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520071/ https://www.ncbi.nlm.nih.gov/pubmed/28513611 http://dx.doi.org/10.1038/ejhg.2017.59 |
Ejemplares similares
-
Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants
por: Prem Senthil, Mallika, et al.
Publicado: (2022) -
CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma
por: Souzeau, Emmanuelle, et al.
Publicado: (2015) -
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF
por: Siggs, Owen M., et al.
Publicado: (2019) -
Pathogenic genetic variants identified in Australian families with paediatric cataract
por: Jones, Johanna L, et al.
Publicado: (2022) -
Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants
por: Souzeau, Emmanuelle, et al.
Publicado: (2020)