Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. [electronic resource]
Producer: 20170125Description: e571-e579 p. digitalISSN:- 1755-3768
- 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
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Publication Type: Case Reports; Journal Article
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