Articles with "phenotyping fetal" as a keyword



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Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series

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Published in 2022 at "Prenatal Diagnosis"

DOI: 10.1002/pd.6269

Abstract: Tubulinopathies refer to conditions caused by genetic variants in isotypes of tubulin resulting in defective neuronal migration. Historically, diagnosis was primarily via postnatal imaging. Our objective was to establish the prenatal phenotype/genotype correlations of tubulinopathies… read more here.

Keywords: prenatal phenotyping; phenotyping fetal; multicenter retrospective; fetal tubulinopathies ... See more keywords