Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis. [PDF]
, 2023 Jagannathan, Vidhya +4 more
core +1 more source
Generalized Epidermolytic Hyperkeratosis in Two Unrelated Children from Parents with Localized Linear Form, and Prenatal Diagnosis [PDF]
, 2006 Nicolas Chassaing +8 more
openalex +1 more source
Post zygotic, somatic, deletion in KERATIN 1 V1 domain generates structural alteration of the K1/K10 dimer, producing a monolateral palmar epidermolytic nevus [PDF]
, 2021 Bernardini S +10 more
core +1 more source
A Novel H1 Mutation in the Keratin 1 Chain in Epidermolytic Hyperkeratosis
, 1996 Jun‐Mo Yang +7 more
openalex +1 more source
Recessive Epidermolytic Hyperkeratosis Caused by a Previously Unreported Termination Codon Mutation in the Keratin 10 Gene [PDF]
, 2009 Patrick Terheyden +6 more
openalex +1 more source
Autosomal dominant non-epidermolytic palmoplantar hyperkeratosis in a Nigerian girl
Nigerian Journal of PaediatricsPalmoplantar keratoderma (PPK) is a hereditary cutaneous disorder characterized by a marked hyperkeratosis of the palms and soles. A variant that was inherited in an autosomal dominant form was highlighted in a 20-month-old girl-child.
Anigilaje EA, Dzuachii DO
doaj
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. [PDF]
, 1994 Andrew J. Syder +5 more
openalex +1 more source
Leukoplakia of the prepuce with epidermolytic hyperkeratosis: a case report
, 1983 G. Kolde, F Vakilzadeh
openalex +2 more sources
Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis [PDF]
, 2003 Marie Virtanen +4 more
openalex +1 more source