Pablo Romero Felipe Sanhueza Pamela Lopez Loreto Reyes Luisa Herrera
Mol Vis
2011;17:1929-39.
CC BY
https://pubmed.ncbi.nlm.nih.gov/21850167/
Eye / metabolism Glaucoma, Open-Angle / genetics LIM-Homeodomain Proteins / genetics Nail-Patella Syndrome / genetics Ocular Hypertension / genetics Transcription Factors / genetics
Eye / metabolism Glaucoma, Open-Angle / genetics LIM-Homeodomain Proteins / genetics Nail-Patella Syndrome / genetics Ocular Hypertension / genetics Transcription Factors / genetics Case Reports Research Support, Non-U.S. Gov't Adult Age of Onset Base Sequence Chile DNA / genetics DNA Mutational Analysis Exons Eye / physiopathology Female Glaucoma, Open-Angle / complications Glaucoma, Open-Angle / physiopathology Heterozygote Humans Male Middle Aged Molecular Sequence Data Mutation, Missense Nail-Patella Syndrome / complications Nail-Patella Syndrome / physiopathology Nerve Fibers / metabolism Nerve Fibers / pathology Ocular Hypertension / complications Ocular Hypertension / physiopathology Pedigree Phenotype Polymerase Chain Reaction Vision Tests LIM homeobox transcription factor 1 beta LIM-Homeodomain Proteins Transcription Factors DNA
PMC3154131
21850167
c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma
2011