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Published in 2019 at "European Journal of Human Genetics"
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…
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Keywords:
associated neurodevelopmental;
hist1h4j;
hist1h4c associated;
hist1h4j gene ... See more keywords