Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
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DOI: 10.1038/s41431-020-0679-8
Abstract: Lysine-specific methyltransferase 2A (KMT2A) is responsible for methylation of histone H3 (K4H3me) and contributes to chromatin remodeling, acting as “writer” of the epigenetic machinery. Mutations in KMT2A were first reported in Wiedemann–Steiner syndrome (WDSTS). More… read more here.
Keywords: phenotype; rubinstein taybi; wiedemann steiner; kmt2a variants ... See more keywords