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Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).
- Source :
-
Archives of ophthalmology (Chicago, Ill. : 1960) [Arch Ophthalmol] 2010 Oct; Vol. 128 (10), pp. 1376-9. - Publication Year :
- 2010
- Subjects :
- Adolescent
Adult
Child
Child, Preschool
Consanguinity
Corneal Diseases diagnosis
Eye Diseases, Hereditary diagnosis
Female
Genotype
Humans
Male
Phenotype
Scleral Diseases diagnosis
Syndrome
Corneal Diseases genetics
Eye Diseases, Hereditary genetics
Mutation
Scleral Diseases genetics
Transcription Factors genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1538-3601
- Volume :
- 128
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Archives of ophthalmology (Chicago, Ill. : 1960)
- Publication Type :
- Report
- Accession number :
- 20938016
- Full Text :
- https://doi.org/10.1001/archophthalmol.2010.238