A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype

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 and Silver-Russell syndrome (S...

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Detalles Bibliográficos
Autores principales: Gaudet, Marie Véronique, Allain, Eric Pierre, Gallant, Lynne M, Arts, Heleen H, Ben Amor, Mouna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Epigenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887386/
https://www.ncbi.nlm.nih.gov/pubmed/35772847
http://dx.doi.org/10.1136/jmedgenet-2021-108288

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887386/
https://www.ncbi.nlm.nih.gov/pubmed/35772847
http://dx.doi.org/10.1136/jmedgenet-2021-108288

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