Variant: rs104893857 

    present in Gene: PITX2
    present in Chromosome: 4
    Position on Chromosome: 110621255
    Alleles of this Variant: A/T

rs104893857 in PITX2 gene and Axenfeld-Rieger Syndrome, Type 1 PMID 16936096 2006 Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

PMID 8944018 1996 Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.

PMID 12381896 2003 Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome.

PMID 11487566 2001 Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.

PMID 10937553 2000 Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.