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Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.
McRae HM, Leong MPY, Bergamasco MI, Garnham AL, Hu Y, Corbett MA, Whitehead L, El-Saafin F, Sheikh BN, Wilcox S, Hannan AJ, Gécz J, Smyth GK, Thomas T, Voss AK. McRae HM, et al. Among authors: wilcox s. PLoS Genet. 2024 Oct 15;20(10):e1011428. doi: 10.1371/journal.pgen.1011428. eCollection 2024 Oct. PLoS Genet. 2024. PMID: 39405291 Free PMC article.
677 results