Abstract
Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.
Highlights
Citation for published version (APA): Pohler, E., Cunningham, F., Sandilands, A., Cole, C., Digby, S., McMillan, J
Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis
It is caused by mutations in loricrin, a small basic protein synthesized in the upper granular layer, which becomes a major constituent of the cornified cell envelope.[3]
Summary
Citation for published version (APA): Pohler, E., Cunningham, F., Sandilands, A., Cole, C., Digby, S., McMillan, J. Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis
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