Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 81 publications
Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2.
Journal: International journal of molecular sciences
Published: June 16, 2022
Dupilumab in the treatment of genodermatosis: A systematic review.
Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Published: March 18, 2022
Sporadic Case of Ichthyosis Bullosa of Siemens in an Infant: A Rare Case.
Journal: Indian journal of dermatology
Published: January 24, 2022
Highly branched poly(β-amino ester)s for gene delivery in hereditary skin diseases.
Journal: Advanced drug delivery reviews
Published: April 15, 2021
Epidermolytic epidermal nevus caused by a somatic mutation in KRT2.
Journal: Pediatric dermatology
Published: February 08, 2021
The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra-Deep Sequence.
Journal: Molecular genetics & genomic medicine
Published: April 14, 2020
Verruciform xanthoma in recessive dystrophic epidermolysis bullosa and keratitis-ichthyosis-deafness syndrome: Report of two cases and a review of the literature.
Journal: Pediatric dermatology
Published: November 12, 2019
Mutations in KRT10 in epidermolytic acanthoma.
Journal: Journal of cutaneous pathology
Published: September 13, 2019
Whole exome sequencing identified two point mutations of COL7A1 and FLG in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris.
Journal: The Journal of dermatology
Published: June 27, 2018
Superficial epidermolytic ichthyosis concomitant with atopic dermatitis.
Journal: European journal of dermatology : EJD
Published: November 25, 2017
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
Journal: International journal of dermatology
Published: May 13, 2017
Ocular manifestations of genetic skin disorders.
Journal: Clinics in dermatology
Published: February 24, 2016
Last Updated: 10/31/2025