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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Clin Epigenetics
Auteurs principaux: Eßinger, Carla, Karch, Stephanie, Moog, Ute, Fekete, György, Lengyel, Anna, Pinti, Eva, Eggermann, Thomas, Begemann, Matthias
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2020
Sujets:
Research
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires