Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

The recent identification of multiple dominant mutations in the gene encoding β-catenin in both humans and mice has enabled exploration of the molecular and cellular basis of β-catenin function in cognitive impairment. In humans, β-catenin mutations that cause a spectrum of neurodevelopmental disord...

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Detalhes bibliográficos
Main Authors: Tucci, Valter, Kleefstra, Tjitske, Hardy, Andrea, Heise, Ines, Maggi, Silvia, Willemsen, Marjolein H., Hilton, Helen, Esapa, Chris, Simon, Michelle, Buenavista, Maria-Teresa, McGuffin, Liam J., Vizor, Lucie, Dodero, Luca, Tsaftaris, Sotirios, Romero, Rosario, Nillesen, Willy N., Vissers, Lisenka E.L.M., Kempers, Marlies J., Vulto-van Silfhout, Anneke T., Iqbal, Zafar, Orlando, Marta, Maccione, Alessandro, Lassi, Glenda, Farisello, Pasqualina, Contestabile, Andrea, Tinarelli, Federico, Nieus, Thierry, Raimondi, Andrea, Greco, Barbara, Cantatore, Daniela, Gasparini, Laura, Berdondini, Luca, Bifone, Angelo, Gozzi, Alessandro, Wells, Sara, Nolan, Patrick M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3973091/
https://ncbi.nlm.nih.gov/pubmed/24614104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI70372
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