A Novel Mutation in the Connexin 26 Gene (GJB2) in a Child with Clinical and Histological Features of Keratitis-Ichthyosis-Deafness (KID) Syndrome
September 2010
in “
Clinical and Experimental Dermatology
”
Studysummary This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
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