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Article

Molecular diagnosis of Shwachman-Diamond syndrome in a child with incomplete clinical disease phenotype.

Pediatric blood & cancer - 15 Jul 2010

Linden Tobias, Ehlert Karoline, Niemeyer Charlotte M, Fleischhack Gudrun, Jürgens Heribert, Rossig Claudia

Abstract excerpt

We report a 6-year-old female with congenital bone marrow failure, who was referred for allogeneic stem cell transplantation. An initial work-up in infancy had not revealed any consistent symptoms associated with an inherited syndrome. Computed tomography of her abdomen for gastrointestinal bleed...

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PMID: 20486183
DOI: 10.1002/pbc.22424

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20486183-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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