Article
Axenfeld-Rieger syndrome: more than meets the eye.
Journal of medical genetics - 1 Apr 2023
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
Abstract excerpt
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. METHODS: Genetic and phenotypic characterisation of the largest reported ARS cohort through comprehensive genetic and...
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