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Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Brain. 2023 Dec 1;146(12):5086-5097. doi: 10.1093/brain/awad314.
Brain. 2023.
PMID: 37977818
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
Roux I, Fenollar-Ferrer C, Lee HJ, Chattaraj P, Lopez IA, Han K, Honda K, Brewer CC, Butman JA, Morell RJ, Martin DM, Griffith AJ.
Roux I, et al.
Hum Genet. 2023 Oct;142(10):1499-1517. doi: 10.1007/s00439-023-02581-x. Epub 2023 Sep 5.
Hum Genet. 2023.
PMID: 37668839
Free PMC article.
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