Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy
Sign Up to like & getrecommendations! Published in 2019 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5589
Abstract: Our goal was to describe and illustrate prenatal cerebral imaging features of the most severe form of a new syndromic entity related to KIAA1109 pathogenic variants based on a retrospective multicentric study of seven cases.… read more here.
Keywords: pathogenic variants; cerebral imaging; imaging features; prenatal cerebral ... See more keywords