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Cri du chat syndrome patients have DNA methylation changes in genes linked to symptoms of the disease

BACKGROUND: Cri du chat (also called 5p deletion, or monosomy 5p) syndrome is a genetic disease caused by deletions of various lengths in the short (p) arm of chromosome 5. Genetic analysis and phenotyping have been used to suggest dose-sensitive genes in this region that may cause symptoms when a g...

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Detalles Bibliográficos
Autores principales: Holland, Petter, Wildhagen, Mari, Istre, Mette, Reiakvam, Olaug Marie, Dahl, John Arne, Søraas, Arne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9563797/
https://www.ncbi.nlm.nih.gov/pubmed/36242045
http://dx.doi.org/10.1186/s13148-022-01350-3