Axenfeld-Rieger syndrome: more than meets the eye

BACKGROUND: Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with distinct phenotypes, but our understanding is incomplete, complicated by the rarity of the condition. ME...

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Detalles Bibliográficos
Autores principales: Reis, Linda M., Maheshwari, Mohit, Capasso, Jenina, Atilla, Huban, Dudakova, Lubica, Thompson, Samuel, Zitano, Lia, Lay-Son, Guillermo, Lowry, R. Brian, Black, Jennifer, Lee, Joseph, Shue, Ann, Kremlikova Pourova, Radka, Vaneckova, Manuela, Skalicka, Pavlina, Jedlickova, Jana, Trkova, Marie, Williams, Bradley, Richard, Gabriele, Bachman, Kristine, Seeley, Andrea H., Costakos, Deborah, Glaser, Thomas M, Levin, Alex V., Liskova, Petra, Murray, Jeffrey C., Semina, Elena V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9912354/
https://www.ncbi.nlm.nih.gov/pubmed/35882526
http://dx.doi.org/10.1136/jmg-2022-108646

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9912354/
https://www.ncbi.nlm.nih.gov/pubmed/35882526
http://dx.doi.org/10.1136/jmg-2022-108646

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