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Article

Thick Corpus Callosum: An Unusual Finding of TUBGCP2-Related Tubulinopathy.

American journal of medical genetics. Part A - 1 Oct 2025

Esen Tuna Eren, Ardiçli Didem, Keçelİ Avni Merter, Çavdarli Büşranur

Abstract excerpt

Tubulinopathies are a group of neurologic disorders caused by mutations in tubulin-related genes, characterized by a broad spectrum of cortical malformations. These disorders are typically associated with a thin or normal corpus callosum, while a thick corpus callosum has been rarely documented. This study reports the first known case of a homozygous insertion variant in the TUBGCP2 gene associated with a thick...

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Source

Identifiers

PMID: 40448381
DOI: 10.1002/ajmg.a.64134

Genes

TUBGCP2

Variants

Provenance

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