Youssefian, Leila <br/><br/>
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.  [electronic resource] 

 -  Human mutation  02 2019 
 - 217-229 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.23686  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Connexin 26<br/>Connexins--genetics<br/>Hearing Loss, Bilateral--genetics<br/>Hearing Loss, Sensorineural--genetics<br/>Humans<br/>Ichthyosis--genetics<br/>Keratoderma, Palmoplantar--genetics<br/>Metalloendopeptidases--genetics<br/>Mutation, Missense--genetics<br/>Oocytes--growth & development<br/>Pedigree<br/>Skin--metabolism<br/>Xenopus--genetics