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Currarino syndrome: a comprehensive genetic review of a rare congenital disorder

BACKGROUND: The triad of a presacral mass, sacral agenesis and an anorectal anomaly constitutes the rare Currarino syndrome (CS), which is caused by dorsal–ventral patterning defects during embryonic development. The major causative CS gene is MNX1, encoding a homeobox protein. MAIN BODY: In the maj...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Dworschak, Gabriel C., Reutter, Heiko M., Ludwig, Michael
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8034116/
https://ncbi.nlm.nih.gov/pubmed/33836786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01799-0
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