Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Seifi, Morteza

Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. [electronic resource] - Acta ophthalmologica Nov 2016 - e571-e579 p. digital

Publication Type: Case Reports; Journal Article

1755-3768

10.1111/aos.13030 doi


Adult
Anterior Eye Segment--abnormalities
Child, Preschool
Consanguinity
DNA Copy Number Variations
DNA Mutational Analysis
Exons--genetics
Eye Abnormalities--genetics
Eye Diseases, Hereditary
Homeodomain Proteins--genetics
Humans
Male
Mutation
Open Reading Frames--genetics
Pedigree
Real-Time Polymerase Chain Reaction
Sequence Deletion
Transcription Factors--genetics
Homeobox Protein PITX2