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

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

Abstract 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...

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Bibliographic Details
Main Authors: Valeria Lo Faro, Sorath N. Siddiqui, Muhammad I. Khan, Cristina Villanueva‐Mendoza, Vianney Cortés‐González, Nomdo Jansonius, Arthur A. B. Bergen, Shazia Micheal
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
anterior segment dysgenesis
Axenfeld‐Rieger
mutations
PITX2
Online Access:https://doi.org/10.1002/mgg3.1215

Internet

https://doi.org/10.1002/mgg3.1215

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