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Article

Prenatal diagnosis of inherited epidermolysis bullosa in a patient with no family history: a case report and literature review.

Prenatal diagnosis - 1 Jan 2006

Azarian Madeleine, Dreux Sophie, Vuillard Edith, Meneguzzi Guerrino, Haber Saranda, Guimiot Fabien, Muller Françoise

Abstract excerpt

OBJECTIVE: The junctional form of epidermolysis bullosa (EB) is a recessively inherited mechanobullous disease in which minimal trauma results in blister formation at the dermal-epidermal junction. A rare form associated with pyloric atresia (JEB-PA) is a severe clinical subtype leading to rapid demise after birth, thus justifying prenatal diagnosis. The case characterized by abnormal ultrasound findings at 35...

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Source

Identifiers

PMID: 16378325
DOI: 10.1002/pd.1349

Genes

AFP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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