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

ConclusionOur study extends the spectrum ofPITX2 mutations in individuals with ARS, enabling an improved diagnosis of this rare but serious syndrome.

Source: Molecular Genetics & Genomic Medicine - May 12, 2020 Category: Genetics & Stem Cells Authors: Valeria Lo Faro, Sorath N. Siddiqui, Muhammad I. Khan, Cristina Villanueva ‐Mendoza, Vianney Cortés‐González, Nomdo Jansonius, Arthur A. B. Bergen, Shazia Micheal Tags: CLINICAL REPORT Source Type: research