Alvarez, Araceli <br/><br/>
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  Feb 2003 
 - 89-91 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter 
<br/><br/><label>ISSN: </label>1552-4825 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.10851  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Amino Acid Sequence<br/>Base Sequence<br/>Connexin 26<br/>Connexins--genetics<br/>DNA--chemistry<br/>DNA Mutational Analysis<br/>Deafness--pathology<br/>Family Health<br/>Female<br/>Humans<br/>Ichthyosis--pathology<br/>Keratitis--pathology<br/>Molecular Sequence Data<br/>Mutation<br/>Pedigree<br/>Sequence Homology, Amino Acid<br/>Syndrome