Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma
Liisa Harjama +12 more
openalex +2 more sources
Aquagenic palmoplantar keratoderma with dorsal hand involvement in an adolescent female [PDF]
Divya Angra, Kunal Angra, Ife J. Rodney
openalex +1 more source
MAL De Meleda Type Of Keratoderma
A child born of a consanguineous marriage showing characteristic features of Mal de Meleda type of palmoplantar keratoderma is reported for its rarity and clinical interest.
Pandhi Deepika, Reddy BSN
doaj
A Rare Case on Capecitabine Induced Acquired Palmoplantar Keratoderma. [PDF]
Tsaqilah L +5 more
europepmc +1 more source
Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma [PDF]
Changxing Li +9 more
openalex +1 more source
Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda [PDF]
Mal de Meleda is an autosomal recessive inflammatory and keratotic palmoplantar skin disorder due to mutations in the ARS B gene, encoding for SLURP-1 (secreted mammalian Ly-6/uPAR-related protein 1).
Bertrand, Daniel +8 more
core
Striate palmoplantar keratoderma resulting from a missense mutation in DSG1 [PDF]
Armstrong +10 more
core +2 more sources
Autosomal recessive palmoplantar keratoderma and congenital alopecia [PDF]
INSERM
openalex +1 more source
A Case Report of Keratoderma and Bilateral Deafness
Introduction: Various inherited or acquired disorders are characterized by palmoplantar kera-toderma hyperkeratosis of hands and feet, and when accompanied with deafness indicates mutations in the gene encoding connexin -26 or a particular mutation ...
Gholamreza Eshghi +2 more
doaj
Phenotypic and genotypic analysis of
Zhongtao Li +6 more
openalex +1 more source

