Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

Maria O. Levitin; Lettie E. Rawlins; Gabriela Sanchez-Andrade; Osama A. Arshad; Stephan C. Collins; Stephen J. Sawiak; Phillip H. Iffland; Malin H.L. Andersson; Caleb Bupp; Emma L. Cambridge; Eve L. Coomber; Ian Ellis; Johanna C. Herkert; Holly Ironfield; Logan Jory; Perrine F. Kretz; Sarina G. Kant; Alexandra Neaverson; Esther Nibbeling; Christine Rowley; Emily Relton; Mark Sanderson; Ethan M. Scott; Helen Stewart; Andrew Y. Shuen; John Schreiber; Liz Tuck; James Tonks; Thorkild Terkelsen; Conny van Ravenswaaij-Arts; Pradeep Vasudevan; Olivia Wenger; Michael Wright; Andrew Day; Adam Hunter; Minal Patel; Christopher J. Lelliott; Peter B. Crino; Binnaz Yalcin; Andrew H. Crosby; Emma L. Baple; Darren W. Logan; Matthew E. Hurles; Sebastian S. Gerety

Journal ArticleOPEN ACCESS

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

Levitin M
Rawlins L
Sanchez-Andrade G
et al.

Brain (2023) 146(11) 4766-4783

DOI: 10.1093/brain/awad231

2Citations

6Readers

Abstract

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

Author supplied keywords

animal model
iPSC
mTOR
macrocephaly
neurodevelopmental disorders
recessive

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CITATION STYLE

APA

Levitin, M. O., Rawlins, L. E., Sanchez-Andrade, G., Arshad, O. A., Collins, S. C., Sawiak, S. J., … Gerety, S. S. (2023). Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. Brain, 146(11), 4766–4783. https://doi.org/10.1093/brain/awad231

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

Abstract

Author supplied keywords

Cite

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