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Article

MNX1 (HLXB9) mutations in Currarino patients.

Journal of pediatric surgery - 1 Oct 2009

Garcia-Barceló Maria-Mercè, Lui Vincent Chi-Hang, So Man-ting, Miao Xiaoping, Leon Thomas Yuk-yu, Yuan Zhen-wei, Ngan Elly Sau-wai, Ehsan Toufique, Chung Patrick Ho-yu, Khong Pek-lan, Wong Kenneth Kak-yuen, Tam Paul Kwong-hang

Abstract excerpt

PURPOSE: The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in MNX1 motor neuron and pancreas homeobox 1 (previously HLXB9). Here, we report on the MNX1 mutations found in a family segregating CS and in 3 sporadic CS patients, as well as on the clinical characteristics of the affected individuals....

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Source

Identifiers

PMID: 19853743
DOI: 10.1016/j.jpedsurg.2009.03.039

Genes

MNX1

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

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Currarino syndrome: a comprehensive genetic review of a rare congenital disorderSemantic proximity Read ↗

The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome.Semantic proximity Read ↗

A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome.Semantic proximity Read ↗

Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome.Semantic proximity Read ↗

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