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View article: Familial currarino syndrome caused by a deep intronic variant resulting in missplicing of MNX1
Familial currarino syndrome caused by a deep intronic variant resulting in missplicing of MNX1 Open
Currarino syndrome (CS) is an autosomal dominant multiple congenital anomalies syndrome characterised by a triad of anorectal malformations, presacral masses, and sacral defects. To date, pathogenic variants in only one gene, MNX1, have be…