Brittle cornea syndrome: recognition, molecular diagnosis and management.
Burkitt Wright, Emma M M
Brittle cornea syndrome: recognition, molecular diagnosis and management. [electronic resource] - Orphanet journal of rare diseases May 2013 - 68 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
1750-1172
10.1186/1750-1172-8-68 doi
Adolescent
DNA-Binding Proteins--genetics
Ehlers-Danlos Syndrome--diagnosis
Eye Abnormalities
Female
Humans
Joint Instability--congenital
Mutation
Skin Abnormalities
Transcription Factors--genetics
Brittle cornea syndrome: recognition, molecular diagnosis and management. [electronic resource] - Orphanet journal of rare diseases May 2013 - 68 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
1750-1172
10.1186/1750-1172-8-68 doi
Adolescent
DNA-Binding Proteins--genetics
Ehlers-Danlos Syndrome--diagnosis
Eye Abnormalities
Female
Humans
Joint Instability--congenital
Mutation
Skin Abnormalities
Transcription Factors--genetics