Condition: IRIS HYPOPLASIA WITH GLAUCOMA


rs104893951 in FOXC1 gene and IRIS HYPOPLASIA WITH GLAUCOMA PMID 12614756 2003 A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.

PMID 20881294 2011 Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

PMID 19279310 2009 Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia.

PMID 18484311 2008 Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.

PMID 9620769 1998 The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

PMID 19793056 2009 Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis.