Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder caused by disturbances of the chromosomal region 11p15.5. The most frequent molecular finding in BWS is loss of methylation (LOM) of the Imprinting Centre 2 (IC2) region on the maternal allele, which is localised in intron 10 of...

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Bibliographic Details
Published in:Clin Epigenetics
Main Authors: Eßinger, Carla, Karch, Stephanie, Moog, Ute, Fekete, György, Lengyel, Anna, Pinti, Eva, Eggermann, Thomas, Begemann, Matthias
Format: Artigo
Language:Inglês
Published: BioMed Central 2020
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Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7216698/
https://ncbi.nlm.nih.gov/pubmed/32393365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-020-00856-y
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