An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1(Y446C/Y446C) mutation

Pierpont syndrome is a rare disorder characterized mainly by global developmental delay, unusual facial features, altered fat distribution in the limbs and hearing loss. A specific mutation (p.Tyr446Cys) in TBL1XR1, encoding a WD40 repeat-containing protein, which is a component of the SMRT/NCoR (si...

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Detalles Bibliográficos
Autores principales: Hu, Yalan, Lauffer, Peter, Stewart, Michelle, Codner, Gemma, Mayerl, Steffen, Heuer, Heike, Ng, Lily, Forrest, Douglas, van Trotsenburg, Paul, Jongejan, Aldo, Fliers, Eric, Hennekam, Raoul, Boelen, Anita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433735/
https://www.ncbi.nlm.nih.gov/pubmed/35416977
http://dx.doi.org/10.1093/hmg/ddac086

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433735/
https://www.ncbi.nlm.nih.gov/pubmed/35416977
http://dx.doi.org/10.1093/hmg/ddac086

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