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Article

A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination.

The Journal of investigative dermatology - 1 Nov 1998

Gache Y, Romero-Graillet C, Spadafora A, Lépinard C, Descamps P, Bardon C B, Ortonne J P, Meneguzzi G

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Topics

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Antigens, CD
Epidermolysis Bullosa, Junctional
Homozygote
Integrin alpha6
Mutation
Pregnancy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ultrasonography, Prenatal

Source

Identifiers

PMID: 9804362
DOI: 10.1046/j.1523-1747.1998.00373.x

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A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination.PMID 9804362Read ↗

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Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.Semantic proximity Read ↗

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).Semantic proximity Read ↗

A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation.Semantic proximity Read ↗

Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.Semantic proximity Read ↗

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Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.Semantic proximity Read ↗

Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4.Semantic proximity Read ↗

Very-Early-Onset Inflammatory Bowel Disease in a Patient With Junctional Epidermolysis Bullosa With a Homozygous Mutation in the α6 Integrin Gene (ITGA6).Semantic proximity Read ↗

Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.Semantic proximity Read ↗

Identification of novel compound heterozygous ITGB4 mutations in a Chinese woman with junctional epidermolysis bullosa without pylori atresia but profound urinary symptoms: A case report and review of the literature.Semantic proximity Read ↗

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4).Semantic proximity Read ↗

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