COG6-CDG: Novel variants and novel malformation.
Lara CirnigliaroPaolo BianchiLuisa SturialeDomenico GarozzoGiovanna MangiliLiesbeth KeldermansRenata RizzoGert MatthijsAgata FiumaraJaak JaekenRita BaronePublished in: Birth defects research (2022)
The congenital recto-vaginal fistula is a rare type of anorectal malformation that, to our knowledge, has not been reported in patients with a COG6 defect nor in patients with other COG defects. This study broadens COG6-CDG genetic landscape and spectrum of malformations.
Keyphrases