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Article

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

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

Urreizti Roser, Vissicchio Jessica, Idries Mohamed, Cozar Monica, Rabionet Raquel, Donald Tyhiesia, Bhoj Elizabeth J, Nomakuchi Tomoki T, Shipley Shannon C, Timms Andrew E, Mirzaa Ghayda M, Serrano Mercedes, Sobering Andrew K

Abstract excerpt

The gamma-tubulin ring complex (γ-TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ-TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations. We describe two missense variants in TUBG1 and their associated clinical phenotypes. One...

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Source

Identifiers

PMID: 40298439
DOI: 10.1002/ajmg.a.64095

Genes

TUBG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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