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

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

Abstract 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 patient...

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Bibliographic Details
Main Authors: Lu Han, Zhen Zhang, Hui Wang, Hui Song, Qing Gao, Yuchun Yan, Ran Tao, Ping Xiao, Long Li, Qian Jiang, Qi Li
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Currarino syndrome
MNX1
Genotype–phenotype analysis
Recurrent
Noncanonical splice site variant
Online Access:http://link.springer.com/article/10.1186/s13023-020-01442-4

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http://link.springer.com/article/10.1186/s13023-020-01442-4

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