Novel MNX1 mutations and genotype–phenotype analysis of patients with Currarino syndrome

BACKGROUND: Currarino syndrome (CS) is a specific complex of congenital caudal anomalies, including anorectal malformations, presacral mass and sacral anomalies. Mutations in the MNX1 gene are closely related to CS and occur in almost all familial cases and less than half of sporadic patients. We in...

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Detalles Bibliográficos
Autores principales: Han, Lu, Zhang, Zhen, Wang, Hui, Song, Hui, Gao, Qing, Yan, Yuchun, Tao, Ran, Xiao, Ping, Li, Long, Jiang, Qian, Li, Qi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310025/
https://www.ncbi.nlm.nih.gov/pubmed/32571425
http://dx.doi.org/10.1186/s13023-020-01442-4

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