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Article

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2021

Schröter Julian, Döring Jan H, Garbade Sven F, Hoffmann Georg F, Kölker Stefan, Ries Markus, Syrbe Steffen

Abstract excerpt

PURPOSE: TUBA1A and TUBB2B tubulinopathies are rare neurodevelopmental disorders characterized by cortical and extracortical malformations and heterogenic phenotypes. There is a need for quantitative clinical endpoints that will be beneficial for future diagnostic and therapeutic trials. METHODS: Quantitative natural history modeling of individuals with TUBA1A and TUBB2B tubulinopathies from clinical reports and...

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Identifiers

PMID: 33082561
DOI: 10.1038/s41436-020-01001-z
PMCID: PMC7935713

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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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