Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene
March 2015
in “
Journal of dermatology
”
Studysummary This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
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