Posterior embryotoxon may not be a forme fruste of Axenfeld-Rieger’s Syndrome

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

Darryl Nishimura, Ruth E. Swiderski, Wallace L.M. Alward et al. · Nature Genetics · 1998 · 472 citations

Life Sciences, Genetics, Molecular Genetics +10

Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome.

M. Bruce Shields · PubMed · 1983 · 190 citations

Medicine, Ophthalmology, Surgery +17

A second locus for Rieger syndrome maps to chromosome 13q14.

Phillips Jc, del Bono, Haines Jl et al. · PubMed · 1996 · 181 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

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

Megan Priston · Human Molecular Genetics · 2001 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4

Jeffrey C. Murray, Steven R. Bennett, Anne E. Kwitek et al. · Nature Genetics · 1992 · 105 citations

Life Sciences, Genetics, Molecular Genetics +7