Rohrbach, Marianne <br/><br/>
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 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2013.04.014  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Child<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>DNA-Binding Proteins--genetics<br/>Ehlers-Danlos Syndrome--diagnosis<br/>Exons<br/>Extracellular Matrix--genetics<br/>Eye Abnormalities<br/>Female<br/>Gene Expression Regulation<br/>Genotype<br/>Humans<br/>Joint Instability--congenital<br/>Mutation<br/>Skin Abnormalities<br/>Transcription Factors--genetics