A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
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Cuvertino S, et al. Among authors: squeo gm.
Genet Med. 2020 May;22(5):867-877. doi: 10.1038/s41436-019-0743-3. Epub 2020 Jan 17.
Genet Med. 2020.
PMID: 31949313
Free PMC article.