Results 181 to 190 of about 6,541 (223)

Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma

Genetics in Medicine, 2022
Kiril Malovitski, Ofer Sarig, Sari Assaf
exaly  

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)

Lancet, The, 2000
Andrew Crosby, Adalena Tsatsopoulou
exaly  

Palmoplantar Keratoderma

2016
Chander Grover, Ankur Talwar, Rajesh Verma, Sahana Srinivas   +3 more
openaire   +1 more source

CRISPR/Cas9-Mediated Treatment Ameliorates the Phenotype of the Epidermolytic Palmoplantar Keratoderma-like Mouse

Molecular Therapy - Nucleic Acids, 2018
Xian-Ning Zhang
exaly  

Palmoplantar keratodermas

2015
openaire   +2 more sources

Palmoplantar keratodermas - PPK

2016
Palpmoplantar keratodermas are clinically and genetically heterogeneous group of genodermatoses, which share impaired epidermal differentiation resulting in prominent palmoplantar hyperkeratosis. Clinical diagnosis of PPK is sometimes very difficult bacause of clinical heterogenity, genetic heterogenity and the probable exsitence of as yet unidentified
openaire  

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Nature Genetics, 2012
Jennifer Hirst, Mozheh Zamiri, Toshifumi Nomura   +2 more
exaly  

Palmoplantar keratoderma

2011
openaire   +2 more sources

Palmoplantar Keratoderma

2020
openaire   +1 more source

A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy

Molecular Therapy - Nucleic Acids, 2016
Xian-Ning Zhang
exaly