Articles with "phenotyping 3q29" as a keyword



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Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care

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Published in 2021 at "Genetics in Medicine"

DOI: 10.1038/s41436-020-01053-1

Abstract: Purpose To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care.… read more here.

Keywords: 3q29 deletion; deletion; phenotyping 3q29; deep phenotyping ... See more keywords