Article

Forkhead box R1-mediated stress response linked to a case of human microcephaly and brain atrophy

2020-11-03

Abstract excerpt

Forkhead box (Fox) family 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 FOXR1 ex...

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Literature Corpus work: f7d05f93-2cf1-582d-8411-4d8d440c316a
DOI: 10.1101/2020.11.03.366740

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