Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.

doi:10.1093/hmg/8.1.143

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Article

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.

Human molecular genetics - 1 Jan 1999

Armstrong D K, McKenna K E, Purkis P E, Green K J, Eady R A, Leigh I M, Hughes A E

Abstract excerpt

Desmosomes are highly organized intercellular adhesive junctions that are particularly prominent in epidermis and other tissues experiencing mechanical stress. Desmoplakin, a constitutive component of the desmosomal plaque, is the most abundant protein present in such junctions and plays a critic...

Topics

Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 6
Cytoskeletal Proteins
DNA
DNA Primers
Desmoplakins
Desmosomes
Female
Heterozygote
Humans
Keratoderma, Palmoplantar
Lod Score
Male
Microscopy, Electron
Molecular Sequence Data
Pedigree
Phenotype

Source

Open in PubMed

Identifiers

PMID: 9887343
DOI: 10.1093/hmg/8.1.143

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9887343-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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