Associated Papers
Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.
Yang Y et al.
The British Journal of Dermatology, 2026
MVD Variants Identified in a Rare Clinical Variant of Porokeratosis: A Case Report of Disseminated Superficial Porokeratosis (DSP) in a Chinese Patient.
Yu T et al.
Clinical, Cosmetic and Investigational Dermatology, 2024
Origin of breath isoprene in humans is revealed via multi-omic investigations.
Sukul P et al.
Communications Biology, 2023
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Oddsson A et al.
Nature Communications, 2023
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin.
Jägle S et al.
Acta Dermato-venereologica, 2021
Recurrent MVD mutation in European patients with disseminated porokeratosis.
Saleva-Stateva M et al.
The British Journal of Dermatology, 2021
Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.
Atzmony L et al.
Journal of the American Academy of Dermatology, 2020
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis.
Atzmony L et al.
Jama Dermatology, 2019
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1312.477
Pathogenesis-directed treatment of linear porokeratosis with topical cholesterol-lovastatin.
Maredia H et al.
Pediatric Dermatology, 0
Select a paper to view details