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ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

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1 Published in 2022 at "Brain"

DOI: 10.1093/brain/awac034

Abstract: Abstract Bi-allelic pathogenic variants in ZBTB11 have been associated with intellectual developmental disorder, autosomal recessive 69 (MRT69; OMIM 618383). We report five patients from three families with novel, bi-allelic variants in ZBTB11. We have expanded… read more here.

Keywords: mitochondrial functions; dysfunction spectrum; brain; zbtb11 dysfunction ... See more keywords