# Exfoliative ichthyosis

> Autosomal recessive exfoliative ichthyosis. Ichthyosis exfoliativa

**Wikidata**: [Q50824137](https://www.wikidata.org/wiki/Q50824137)  
**Source**: https://4ort.xyz/entity/exfoliative-ichthyosis


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion
4. Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions