Genodermatosis - Open Access .click

Results 91 to 100 of about 2,708 (203)

Rare Homozygous CTSC Deletion in Siblings with Papillon-Lefevre Syndrome: A Case Report

BioMed Target Journal
Papillon-Lefevre syndrome (PLS) is an extremely rare autosomal recessive genodermatosis caused by mutations in the cathepsin C (CTSC) gene. It is characterized by palmoplantar keratoderma (PPK), periodontopathy, intracranial calcifications, and recurrent
Fatima AlQaydi, Mohamed Ahmed
doaj +1 more source

Progressive Symmetric Erythrokeratoderma- A Rare Genodermatosis

, 2021
Dr Mudita Gupta
openalex +1 more source

Dyschromatosis Universalis Hereditaria - Case Report of a Rare Genodermatosis in India

, 2017
Sushant Mane +5 more
openalex +1 more source

Eritroqueratodermia variabilis

Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica, 2006
La eritroqueratodermia variabilis (OMIM 133200) es una genodermatosis rara descrita en Holanda a principios del siglo pasado, caracterizada por una distintiva combinación de dos aspectos morfológicos: máculas eritematosas migratorias y placas ...
Fabián Andrés Hernández Velasco, Germán Santacoloma Osorio +1 more
doaj

Faculty Opinions recommendation of A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.

, 2010
Sue Malcolm, Daniel Kelberman
openalex +2 more sources

Goltz-Gorlin syndrome: A rare genodermatosis