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Article

Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype.

American journal of medical genetics. Part A - 1 Jan 2013

Booij Jan, Reneman Liesbeth, Alders Marielle, Kuijpers Taco W

Abstract excerpt

Patients with Shwachman-Diamond syndrome (SDS) do not only experience well-described physical features like skeletal abnormalities and hematological dysfunctions, but recent studies also suggested attention and working memory deficits in SDS. Indeed, a recent structural magnetic resonance imaging (MRI) study demonstrated smaller brain regions in SDS. Regarding attention and working memory, however, an important...

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Source

Identifiers

PMID: 23239620
DOI: 10.1002/ajmg.a.35687

Genes

SDS

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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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