Article
Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly.
American journal of medical genetics. Part A - 1 Apr 2017
Raun Nicholas, Mailo Janette, Spinelli Egidio, He Xu, McAvena Sarah, Brand Logan, O'Sullivan Julia, Andersen John, Richer Lawrence, Tang-Wai Richard, Bolduc Francois V
Abstract excerpt
As genome wide techniques become more common, an increasing proportion of patients with intellectual disability (ID) are found to have genetic defects allowing genotype-phenotype correlations. Previously, AKT3 deletion was suggested to be responsible for microcephaly in patients with 1q43-q44 deletion syndrome, but this does not correspond to all cases. We report a case of a de novo 1q44 deletion in an 8-year-old...
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