Results 141 to 150 of about 7,515 (243)

Striate palmoplantar keratoderma

Dermatology Online Journal, 2002
openaire   +4 more sources

A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness [PDF]

, 2008
Eugene A. de Zwart‐Storm, Michel van Geel, PIERRE A. F. A. VAN NEER, Peter M. Steijlen, Patricia E. Martin, Maurice A. M. Van Steensel   +5 more
openalex   +1 more source

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma [PDF]

, 2001
DebbieM Hunt, Lisa Rickman, NeilV Whittock, RobinAJ Eady, Danijela Šimrak, P. Dopping-Hepenstal, HowardP Stevens, DKeithB Armstrong, Hans-Christian Hennies, Wolfgang Küster, A. Hughes, Joachim Arnemann, IreneM Leigh, John A. McGrath, David P. Kelsell, RogerS. Buxton   +15 more
openalex   +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

843 Atypical epidermolytic palmoplantar keratoderma is a mild phenotypic variant of epidermolytic ichthyosis: A new proposal from ultrastructural observations and pro-inflammatory cytokine analyses [PDF]

, 2023
O. Ansai, R. Hayashi, T. Katsumi, T. Miyauchi, K. Okuyama, S. Shibata, S. Shinkuma, K. Natsuga, T. Nomura, R. Abe, M. Ito   +10 more
openalex   +1 more source

Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy. [PDF]

JAAD Case Rep, 2023
Eriksson D, Gyll D, Virtanen M, Dahl N, Klar J, Stattin EL.   +5 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

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases. [PDF]

Int J Mol Sci, 2022
Shchagina O, Fedotov V, Markova T, Shatokhina O, Ryzhkova O, Fedotova T, Polyakov A.   +6 more
europepmc   +1 more source

Palmoplantar keratoderma in a middle-aged male. [PDF]

JAAD Case Rep
Siriwardene M, Isaacs F.
europepmc   +1 more source

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