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1
Published in 2020 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-106868
Abstract: Background The chromosomal region 11p15.5 harbours two imprinting centres (H19/IGF2:IG-DMR/IC1, KCNQ1OT1:TSS-DMR/IC2). Molecular alterations of the IC2 are associated with Beckwith-Wiedemann syndrome (BWS), whereas only single patients with growth retardation and Silver-Russell syndrome (SRS) features have…
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Keywords:
deletion;
growth retardation;
associated growth;
132 deletion ... See more keywords
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2
Published in 2022 at "Journal of Medical Genetics"
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…
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Keywords:
silver russell;
deletion;
132 deletion;
kcnq1ot1 gene ... See more keywords