ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

Rohrbach, Marianne

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. [electronic resource] - Molecular genetics and metabolism Jul 2013 - 289-95 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1096-7206

10.1016/j.ymgme.2013.04.014 doi


Adolescent
Child
Child, Preschool
DNA Mutational Analysis
DNA-Binding Proteins--genetics
Ehlers-Danlos Syndrome--diagnosis
Exons
Extracellular Matrix--genetics
Eye Abnormalities
Female
Gene Expression Regulation
Genotype
Humans
Joint Instability--congenital
Mutation
Skin Abnormalities
Transcription Factors--genetics