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Article

Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.

Prenatal diagnosis - 1 Apr 1997

Christiano A M, Pulkkinen L, McGrath J A, Uitto J

Abstract excerpt

Epidermolysis bullosa (EB) is a group of heritable diseases which manifest with blistering and erosions of the skin and mucous membranes. Due of life-threatening complications and significant long-term morbidity associated with the severe, neonatal lethal (Herlitz) form of junctional EB (H-JEB),...

Topics

Amniotic Fluid
Cell Adhesion Molecules
Chorionic Villi Sampling
DNA
Epidermolysis Bullosa, Junctional
Female
Fetal Diseases
Genotype
Humans
Infant
Infant, Newborn
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymerase Chain Reaction

Pregnancy

Prenatal Diagnosis

Kalinin

Source

Identifiers

PMID: 9160387

Genes

LAMA3
LAMB3
LAMC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9160387-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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