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Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening

Axenfeld-Rieger Syndrome (ARS) is comprised of a group of autosomal dominant disorders that are each characterized by anterior segment abnormalities of the eye. Mutations in the transcription factors FOXC1 or PITX2 are the most well-studied genetic manifestations of this syndrome. Due to the rarity...

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Detalles Bibliográficos
Autores principales: Muzyka, Logan, Winterhalter, Emily, LoPresti, Melissa A., Scoville, Jonathan, Bohnsack, Brenda L., Lam, Sandi K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10395477/
https://www.ncbi.nlm.nih.gov/pubmed/37539177
http://dx.doi.org/10.1016/j.heliyon.2023.e18225