Article
FOXR1 regulates stress response pathways and is necessary for proper brain development.
PLoS genetics - 1 Nov 2021
Mota Andressa, Waxman Hannah K, Hong Rui, Lagani Gavin D, Niu Sheng-Yong, Bertherat Féodora L, Wolfe Lynne, Malicdan Christine May, Markello Thomas C, Adams David R, Gahl William A, Cheng Christine S, Beffert Uwe, Ho Angela
Abstract excerpt
The forkhead box (Fox) family of transcription factors are highly conserved and play essential roles in a wide range of cellular and developmental processes. We report an individual with severe neurological symptoms including postnatal microcephaly, progressive brain atrophy and global developmental delay associated with a de novo missense variant (M280L) in the FOXR1 gene. At the protein level, M280L impaired...
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