Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.,Molecular Genetics & Genomic Medicine

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Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-05-13 , DOI: 10.1002/mgg3.1215
Valeria Lo Faro _{1,

2} , Sorath N Siddiqui ₃ , Muhammad I Khan ₄ , Cristina Villanueva-Mendoza ₅ , Vianney Cortés-González ₅ , Nomdo Jansonius ₂ , Arthur A B Bergen _{1,

6,

7} , Shazia Micheal ₁

Affiliation

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.

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