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Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.
Front Pediatr. 2022 Jul 22;10:940294. doi: 10.3389/fped.2022.940294. eCollection 2022.
Front Pediatr. 2022.
PMID: 35935361
Free PMC article.
RESULTS: Variants in non-cohesion genes were found in six patients [KMT2A (n = 2), KMT2D, ANKRD11, KDM6A, and UBE2A]. Of them, four variants (KMT2A c.7789C > T, ANKRD11 c.1757_1776del, KDM6A c.655-1G > A, and UBE2A c.439C > T) were novel. ...The average cli …
RESULTS: Variants in non-cohesion genes were found in six patients [KMT2A (n = 2), KMT2D, ANKRD11, KDM6A, and UBE2A]. Of them, four v …
BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome.
García-Gutiérrez P, García-Domínguez M.
García-Gutiérrez P, et al.
Front Mol Biosci. 2021 Jul 27;8:709232. doi: 10.3389/fmolb.2021.709232. eCollection 2021.
Front Mol Biosci. 2021.
PMID: 34386522
Free PMC article.
Review.
Actually, CdLS-like phenotypes have been associated to mutations in chromatin-associated proteins, as KMT2A, AFF4, EP300, TAF6, SETD5, SMARCB1, MAU2, ZMYND11, MED13L, PHIP, ARID1B, NAA10, BRD4 or ANKRD11, most of which have no known direct association with cohesin. …
Actually, CdLS-like phenotypes have been associated to mutations in chromatin-associated proteins, as KMT2A, AFF4, EP300, TAF6 …
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