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Article

Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.

Annals of laboratory medicine - 1 May 2018

Lee Seungjun, Kim Eun Jin, Cho Sung Im, Park Hyunwoong, Seo Soo Hyun, Seong Moon Woo, Park Sung Sup, Jung Sung Eun, Lee Seong Cheol, Park Kwi Won, Kim Hyun Young

Abstract excerpt

BACKGROUND: The major genetic cause of Currarino syndrome (CS), a congenital malformation syndrome typically characterized by sacral agenesis, anorectal malformation, and presence of a pre-sacral mass, is known to be pathogenic variants in motor neuron and pancreas homeobox 1 (MNX1), which exist in almost all familial cases and 30% of sporadic cases. Less commonly, a large deletion or a complex rearrangement...

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Identifiers

PMID: 29401559
DOI: 10.3343/alm.2018.38.3.242
PMCID: PMC5820069

Genes

MNX1

Variants

Provenance

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Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.PMID 29401559Read ↗

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