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Article

Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.

The Journal of investigative dermatology - 1 Dec 1998

Hammami-Hauasli N, Raghunath M, Küster W, Bruckner-Tuderman L

Abstract excerpt

The neonatal skin blistering disorder transient bullous dermolysis of the newborn (TBDN) heals spontaneously or improves dramatically within the first months and years of life. TBDN is characterized by subepidermal blisters, reduced or abnormal anchoring fibrils at the dermo-epidermal junction, and electron-dense inclusions in keratinocytes. These features are partly similar to those in dystrophic epidermolysis...

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Source

Identifiers

PMID: 9856844
DOI: 10.1046/j.1523-1747.1998.00394.x

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Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.PMID 9856844Read ↗

Transient bullous dermolysis of the newborn in three generations.Semantic proximity Read ↗

Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene.Semantic proximity Read ↗

A novel pathogenic mutation in the COL7A1 gene resulting in mild autosomal dominant bullous dermolysis of the newborn.Semantic proximity Read ↗

Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII.Semantic proximity Read ↗

Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen.Semantic proximity Read ↗

A Case of Dominant Dystrophic Epidermolysis Bullosa with a G2043R Mutation in the Type VII Collagen Gene.Semantic proximity Read ↗

An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.Semantic proximity Read ↗

A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.Semantic proximity Read ↗

Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa within the same family: two phenotypes associated with a COL7A1 mutation.Semantic proximity Read ↗

Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).Semantic proximity Read ↗

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