Article
Novel MNX1 mutations and genotype-phenotype analysis of patients with Currarino syndrome.
Orphanet journal of rare diseases - 22 Jun 2020
Han Lu, Zhang Zhen, Wang Hui, Song Hui, Gao Qing, Yan Yuchun, Tao Ran, Xiao Ping, Li Long, Jiang Qian, Li Qi
Abstract excerpt
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 investigated the spectrum of MNX1 pathogenic variants and associated clinical features in Chinese patients with CS....
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