Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome

PURPOSE: Axenfeld‐Rieger syndrome (ARS) is a rare autosomal dominant disorder that affects the anterior segment of the eye. The aim of this study was to examine the PITX2 gene to identify possible novel mutations in Pakistani and Mexican families affected by the ARS phenotype. METHODS: Three unrelat...

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Detalles Bibliográficos
Autores principales: Lo Faro, Valeria, Siddiqui, Sorath N., Khan, Muhammad I., Villanueva‐Mendoza, Cristina, Cortés‐González, Vianney, Jansonius, Nomdo, Bergen, Arthur A. B., Micheal, Shazia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336731/
https://www.ncbi.nlm.nih.gov/pubmed/32400113
http://dx.doi.org/10.1002/mgg3.1215

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