Mazereeuw-Hautier, Juliette <br/><br/>
Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe.  [electronic resource] 

 -  Acta dermato-venereologica  Sep 2014 
 - 591-2 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1651-2057 
<br/><br/><label>Standard No.: </label>10.2340/00015555-1818  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution--genetics<br/>Connexin 26<br/>Connexins--genetics<br/>Deafness--genetics<br/>Exons<br/>Fatal Outcome<br/>Humans<br/>Ichthyosis--genetics<br/>Infant<br/>Keratitis--genetics<br/>Male<br/>Mutation