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Generation of the Sotos syndrome deletion in mice

Haploinsufficiency of the human 5q35 region spanning the NSD1 gene results in a rare genomic disorder known as Sotos syndrome (Sotos), with patients displaying a variety of clinical features, including pre- and postnatal overgrowth, intellectual disability, and urinary/renal abnormalities. We used c...

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Detalles Bibliográficos
Autores principales: Migdalska, Anna M., van der Weyden, Louise, Ismail, Ozama, Rust, Alistair G., Rashid, Mamunur, White, Jacqueline K., Sánchez-Andrade, Gabriela, Lupski, James R., Logan, Darren W., Arends, Mark J., Adams, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3510424/
https://www.ncbi.nlm.nih.gov/pubmed/22926222
http://dx.doi.org/10.1007/s00335-012-9416-0