HIGHLIGHTS
- who: Impaired protein hydroxylase activity and collaborators from the InstitutUniversity of of Pediatrics, NYU Langone Medical Center, New York, New York, USA have published the Article: and developmental abnormalities in humans, in the Journal: (JOURNAL)
- what: The authors demonstrate that biallelic germline JMJD5 pathogenic variants are deleterious to JMJD5 mRNA splicing stability and resulting in a human developmental disorder characterized by severe failure to thrive intellectual disability and facial dysmorphism. The authors show that the underlying cellular phenotype is associated with increased DNA replication stress and that this is critically dependent on the of JMJD5 . . .
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