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LOR Gene
Definition
This section has been translated automatically.
The LORICRIN gene is a protein coding gene located on chromosome 1q21.3. So far, several clinical pictures with mutations of the loricrin gene have been described:
- Keratosis palmoplantaris mutilans with mutation in loricin (Camisa type) (mutilating palmoplantar keratosis with cobblestone-like hyperkeratoses and ichthyosis).
- the "loricrin keratoderm" (a patchy palmoplantar keratosis associated with mild ichthyosis) first described by Takahashi and coworkers in 1999.
