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Published in 2018 at "Human Genetics"
DOI: 10.1007/s00439-018-1892-1
Abstract: Intellectual disability (ID) has an estimated prevalence of 1.5–2%. In most affected individuals, its genetic basis remains unclear. Whole exome sequencing (WES) studies have identified a multitude of novel causative gene defects and have shown…
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Keywords:
novo fbxo11;
behavioural anomalies;
intellectual disability;
fbxo11 mutations ... See more keywords