Severe Form of Keratitis–Ichthyosis–Deafness (KID) Syndrome Associated with Septic Complications
June 2010
in “
The Journal of Dermatology
”
Studysummary This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.
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