Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum

Axenfeld–Rieger anomaly (ARA) is a specific ocular disorder that is frequently associated with other systemic abnormalities. PITX2 and FOXC1 variants explain the majority of individuals with Axenfeld–Rieger syndrome (ARS) but leave ~30% unsolved. Here, we present pathogenic/likely pathogenic variant...

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Detalles Bibliográficos
Autores principales: Reis, Linda M., Amor, David J., Haddad, Raad A., Nowak, Catherine B., Keppler-Noreuil, Kim M., Chisholm, Smith Ann, Semina, Elena V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606241/
https://www.ncbi.nlm.nih.gov/pubmed/37895297
http://dx.doi.org/10.3390/genes14101948

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606241/
https://www.ncbi.nlm.nih.gov/pubmed/37895297
http://dx.doi.org/10.3390/genes14101948

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