Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
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DOI: 10.1016/j.ejmg.2021.104373
Abstract: Intellectual disability (ID) often co-occurs with other neurologic phenotypes making molecular diagnosis more challenging particularly in consanguineous populations with the co-segregation of more than one ID-related gene in some cases. In this study, we investigated… read more here.
Keywords: microcephaly; intellectual disability; trappc9; large tunisian ... See more keywords