Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
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Breuss MW, et al. Among authors: srivatsan a.
Hum Mol Genet. 2017 Jan 15;26(2):258-269. doi: 10.1093/hmg/ddw383.
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PMID: 28013290
Free PMC article.