Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.
Valeria Lo FaroSorath N SiddiquiMuhammad I KhanCristina Villanueva-MendozaVianney Cortés-GonzálezNomdo JansoniusArthur A B BergenShazia MichealPublished in: Molecular genetics & genomic medicine (2020)
Our study extends the spectrum of PITX2 mutations in individuals with ARS, enabling an improved diagnosis of this rare but serious syndrome.