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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… Click to show full 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 identified by fetal imaging.
Keywords:
prenatal phenotyping;
phenotyping fetal;
multicenter retrospective;
fetal tubulinopathies;
retrospective case;
tubulinopathies multicenter
Journal Title: Prenatal Diagnosis
Year Published: 2022
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Journal Title: Prenatal Diagnosis
Year Published: 2022
Link to full text (if available)
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recommendations!