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Article

TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.

European journal of medical genetics - 1 Apr 2022

Maasz Anita, Hadzsiev Kinga, Ripszam Reka, Zsigmond Anna, Maka Erika, Knezy Krisztina, Lesch Balazs, Nemeth Adrienn, Bene Judit, Galik Bence, Gyenesei Attila, Melegh Bela

Abstract excerpt

Beta-tubulin 4B isotype is one of the subunits of microtubules encoded by TUBB4B gene on chromosome 9, which is responsible for the maintenance of microtubule stability. In humans, mutations in microtubule-encoding genes have been associated with several tubulinopathies with very heterogeneous symptoms. So far, only two missense mutations in TUBB4B gene have been found to have pathological implications in this...

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Identifiers

PMID: 35240325
DOI: 10.1016/j.ejmg.2022.104471

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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