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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.…
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Keywords:
pathogenic variants;
cerebral imaging;
imaging features;
prenatal cerebral ... See more keywords