A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder
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DOI: 10.1038/s41431-019-0552-9
Abstract: We report here a de novo missense variant in HIST1H4J resulting in a complex syndrome combining growth delay, microcephaly and intellectual disability. Trio whole exome sequencing (WES) revealed that the proband was heterozygous for a… read more here.
Keywords: associated neurodevelopmental; hist1h4j; hist1h4c associated; hist1h4j gene ... See more keywords