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TBL1Y: a new gene involved in syndromic hearing loss.
Eur J Hum Genet. 2019 Mar;27(3):466-474. doi: 10.1038/s41431-018-0282-4. Epub 2018 Oct 19.
Eur J Hum Genet. 2019.
PMID: 30341416
Free PMC article.
Identification of a New Mutation in RSK2, the Gene for Coffin-Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes.
Di Stazio M, Bigoni S, Iuso N, Vuch J, Selvatici R, Ulivi S, d'Adamo PA.
Di Stazio M, et al. Among authors: d adamo pa.
Brain Sci. 2021 Aug 22;11(8):1105. doi: 10.3390/brainsci11081105.
Brain Sci. 2021.
PMID: 34439726
Free PMC article.
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