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Article

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.

Human molecular genetics - 15 Jan 2017

Breuss Martin W, Nguyen Thai, Srivatsan Anjana, Leca Ines, Tian Guoling, Fritz Tanja, Hansen Andi H, Musaev Damir, McEvoy-Venneri Jennifer, James Kiely N, Rosti Rasim O, Scott Eric, Tan Uner, Kolodner Richard D, Cowan Nicholas J, Keays David A, Gleeson Joseph G

Abstract excerpt

The integrity and dynamic properties of the microtubule cytoskeleton are indispensable for the development of the mammalian brain. Consequently, mutations in the genes that encode the structural component (the α/β-tubulin heterodimer) can give rise to severe, sporadic neurodevelopmental disorders. These are commonly referred to as the tubulinopathies. Here we report the addition of recessive quadrupedalism, also...

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Identifiers

PMID: 28013290
DOI: 10.1093/hmg/ddw383
PMCID: PMC6075555

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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