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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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.
格式: Artigo
語言:Inglês
出版: American Society for Clinical Investigation 2014
主題:
Research Article
在線閱讀: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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