Article

PRDM16 co-operates with LHX2 to shape the human brain

2023-08-12

Abstract excerpt

PRDM16 is a dynamic transcriptional regulator of various stem cell niches, including adipocytic, hematopoietic, cardiac progenitors, and neural stem cells. PRDM16 has been suggested to contribute to 1p36 deletion syndrome, one of the most prevalent subtelomeric microdeletion syndromes. We report a patient with a de novo nonsense mutation in the PRDM16 coding sequence, accompanied by lissencephaly and microcephaly...

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Literature Corpus work: a43b0491-a78c-5af1-b4e5-af80a0e485c0
DOI: 10.1101/2023.08.12.553065

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