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Article

Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance.

American journal of human genetics - 1 Apr 2000

Ginzberg H, Shin J, Ellis L, Goobie S, Morrison J, Corey M, Durie P R, Rommens J M

Abstract excerpt

Shwachman-Diamond syndrome is a rare disorder of unknown cause. Reports have indicated the occurrence of affected siblings, but formal segregation analysis has not been performed. In families collected for genetic studies, the mean paternal age and mean difference in parental ages were found to be consistent with the general population. We determined estimates of segregation proportion in a cohort of 84 patients...

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Identifiers

PMID: 10739765
DOI: 10.1086/302856
PMCID: PMC1288206

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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