Axenfeld-Rieger syndrome: more than meets the eye
Axenfeld-Rieger syndrome: more than meets the eye
About this item
Full title
Author / Creator
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. and Semina, Elena V.
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
BackgroundAxenfeld-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.MethodsGenetic and phenotypic characterisation of the l...
Alternative Titles
Full title
Axenfeld-Rieger syndrome: more than meets the eye
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9912354
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9912354
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg-2022-108646
