TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
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Whitman MC, et al. Among authors: almpani k.
Hum Genet. 2021 Dec;140(12):1709-1731. doi: 10.1007/s00439-021-02379-9. Epub 2021 Oct 15.
Hum Genet. 2021.
PMID: 34652576
Free PMC article.