Results 111 to 120 of about 6,541 (223)

A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma [PDF]

, 2014
Barnicoat, A, Drury, S, Harper, JI, Khan, A, Kinsler, VA, Lench, N, O'Shaughnessy, RF, Rukaite, G, Waelchli, R   +8 more
core   +1 more source

A novel KRT6A mutation in a case of pachyonychia congenita from India [PDF]

, 2016
Schwartz, Mary E., Smith, Frances J. D., Tiwary, Anup Kumar, Wilson, Neil J.   +3 more
core   +2 more sources

Genetic palmoplantar keratoderma associated with <i>SERPINA12</i> mutations. [PDF]

CMAJ
Pan L, Bu Z.
europepmc   +1 more source

Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature. [PDF]

Orphanet J Rare Dis, 2023
Gram SB, Bjerrelund J, Jelsig AM, Bygum A, Leboeuf-Yde C, Ousager LB.   +5 more
europepmc   +1 more source

Striate palmoplantar keratoderma resulting from a missense mutation in DSG1 [PDF]

, 2018
Armstrong, Boeckmann, Harmon, Harrison, Hershkovitz, Itin, Kelley, Lovgren, Patel, Shapiro, Whittock   +10 more
core   +2 more sources

Bosutinib-induced palmoplantar keratoderma treated with acitretin. [PDF]

JAAD Case Rep
Chua Y, Wiedemeyer K, Mervak J, Renati S.   +3 more
europepmc   +1 more source

Sporadic Diffuse Palmoplantar Keratoderma in a Pediatric Patient With Early Onset: A Case Report. [PDF]

Cureus
Premkumar L, Preethi P S, Swaminathan A, Sundaram M.   +3 more
europepmc   +1 more source

A frameshift variation in the DSP gene causes a novel subtype of atypical epidermolytic palmoplantar keratoderma: Case report. [PDF]

Front Med (Lausanne)
Lin C, Chen H, Lai S, Huang S, Guo Z, Xie L, Zheng W, Lu J, Zeng Z, Wan C, Li L.   +10 more
europepmc   +1 more source

Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype. [PDF]

Genes (Basel), 2022
Fertitta L, Charbit-Henrion F, Leclerc-Mercier S, Nguyen-Khoa T, Baran R, Alby C, Steffann J, Sermet-Gaudelus I, Hadj-Rabia S.   +8 more
europepmc   +1 more source

Correction: Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G. [PDF]

Front Med (Lausanne)
Mora-Gómez M, Feito M, Gallego-Zazo N, Maseda-Pedrero R, Sobral-Costas TG, Miranda-Alcaraz L, Vásquez-Amell V, Rodríguez-Canó M, Parra A, Cazalla M, Arias P, Silván C, Jiménez-Estrada JA, Ruiz-Pérez VL, Nevado J, Lapunzina P, Tenorio-Castano J.   +16 more
europepmc   +1 more source