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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Orphanet J Rare Dis
Egile Nagusiak: Dworschak, Gabriel C., Reutter, Heiko M., Ludwig, Michael
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2021
Gaiak:
Sarrera elektronikoa: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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