PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. [electronic resource]
Producer: 20011011Description: 151-4 p. digitalISSN:- 0009-9163
- Abnormalities, Multiple -- genetics
- Adolescent
- Adult
- Aniridia -- pathology
- Blepharoptosis -- pathology
- DNA -- chemistry
- DNA Mutational Analysis
- Eye Proteins
- Family Health
- Female
- Homeodomain Proteins -- genetics
- Humans
- Intellectual Disability -- pathology
- Male
- Middle Aged
- Mutation
- Mutation, Missense
- PAX6 Transcription Factor
- Paired Box Transcription Factors
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Repressor Proteins
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Publication Type: Case Reports; Journal Article
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