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Article

Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome.

Prenatal diagnosis - 1 Feb 2004

Muschke Petra, Gola Hannswerner, Varon Raymonda, Röpke Albrecht, Zumkeller Walter, Wieacker Peter, Stumm Markus

Abstract excerpt

OBJECTIVE: We report on the retrospective diagnosis of Nijmegen breakage syndrome (NBS) confirmed by molecular genetic analysis and consecutive prenatal diagnosis in the same family. METHOD: Thirteen years after the death of their daughter due to fatal recurrent infections, a couple presented in...

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Identifiers

PMID: 14974117
DOI: 10.1002/pd.803

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14974117-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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