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Article

Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series

20 Nov 2022

Abstract excerpt

OBJECTIVE: 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 identified by fetal imaging. METHODS: A large, multicenter retrospective case series was performed across nine...

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PMID: 36403095
DOI: 10.1002/pd.6269

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