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Article

Currarino syndrome: variable imaging features in three siblings with HLXB9 gene mutation.

Clinical imaging - 1 Jan 2000

Kim Ah Yeong, Yoo So-Young, Kim Ji Hye, Eo Hong, Jeon Tae Yeon

Abstract excerpt

Currarino syndrome (CS) is characterized by the triad of partial sacral defect, anorectal malformation, and presacral mass and has been recently reported to be associated with mutations in the HLXB9 gene, which have been suggested to be the genetic background of CS. Phenotypic expression of the HLXB9 gene mutation in a CS family varies from an incomplete to a complete triad. We present variable clinical and...

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Identifiers

PMID: 23466002
DOI: 10.1016/j.clinimag.2012.05.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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