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Article

Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome.

Journal of human genetics - 1 Jan 2007

Kim In-Suk, Oh Soo-Young, Choi Suk-Joo, Kim Jong-Hwa, Park Kwan Hyun, Park Hyun-Kyung, Kim Jong-Won, Ki Chang-Seok

Abstract excerpt

Currarino syndrome (CS) is a rare autosomal dominant disease that has been described as a triad of partial sacral agenesis, anorectal anomalies, and a presacral mass. Mutations in the HLXB9 gene have been suggested to be the genetic background of CS. In this study, sequence analysis of the HLXB9 gene was performed in two familial and two sporadic Korean patients showing the clinical features of CS, and two...

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PMID: 17612791
DOI: 10.1007/s10038-007-0173-y

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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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