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

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...

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Dettagli Bibliografici
Pubblicato in:Ann Lab Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Korean Society for Laboratory Medicine 2018
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5820069/
https://ncbi.nlm.nih.gov/pubmed/29401559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2018.38.3.242
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