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ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Brain. 2024 Feb 22:awae058. doi: 10.1093/brain/awae058. Online ahead of print.
Brain. 2024.
PMID: 38386308
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.
Brand F, Vijayananth A, Hsieh TC, Schmidt A, Peters S, Mangold E, Cremer K, Bender T, Sivalingam S, Hundertmark H, Knaus A, Engels H, Krawitz PM, Perne C.
Brand F, et al. Among authors: vijayananth a.
Hum Mutat. 2022 Nov;43(11):1659-1665. doi: 10.1002/humu.24467. Epub 2022 Oct 2.
Hum Mutat. 2022.
PMID: 36104871
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