JAMA ophthalmology۲۰۲۶مطالعه مشاهده ای۱ استنادنمایه شده در PubMed
Giorgina E Maxwell, Joshua M Schmidt, Antonia Kolovos, Thi T Nguyen, Katherine Zamora-Alejo, Jonathan B Ruddle, Michael Alex Craig, Mark Walland, Anne M V Brooks, Krzysztof Bernatowicz, Carmela B Guevarra, Francis Raymond Castor, Edward Ryan Collantes, Michael C Sibulo, Owen M Siggs, Janey L Wiggs, Jamie E Craig, Emmanuelle Souzeau
چکیده
While FOXC1 single-nucleotide variants and deletions are well-established causes of Axenfeld-Rieger syndrome, few FOXC1 duplications have been reported. This study investigated families with duplications encompassing the FOXC1 gene to refine the associated phenotypic spectrum and contribution to…
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DOI: 10.1001/jamaophthalmol.2026.1183