Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.

doi:10.1016/j.ejpn.2020.03.001

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Article

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2020

Blumkin Lubov, Leibovitz Zvi, Krajden-Haratz Karina, Arad Ayala, Yosovich Keren, Gindes Liat, Zerem Ayelet, Ben-Sira Liat, Lev Dorit, Nissenkorn Andrea, Kidron Dvora, Dobyns William B, Malinger Gustavo, Bahi-Buisson Nadia, Leventer Richard J, Lerman-Sagie Tally

Abstract excerpt

OBJECTIVE: To describe fetal, clinical, radiological, morphological features of TUBB3 related syndrome. METHODS: We report two families each of two generations harboring a novel and a previously described heterozygous TUBB3 pathogenic variants. We compared these patients with other published TUBB3-related cases. We describe the pathological features of dysgyria in the two aborted fetuses. RESULTS: The mother and...

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PMID: 32169460
DOI: 10.1016/j.ejpn.2020.03.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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