A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype
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DOI: 10.1136/jmedgenet-2021-108288
Abstract: Background Imprinting centre 2 (IC2) in the chromosomal region 11p15.5 regulates the monoallelic expression of imprinted genes by differential methylation of paternal and maternal chromosomes. Copy number variants in IC2 are associated with Beckwith-Wiedemann syndrome… read more here.
Keywords: silver russell; deletion; 132 deletion; kcnq1ot1 gene ... See more keywords