The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review
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DOI: 10.3389/fgene.2019.00058
Abstract: Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported… read more here.
Keywords: phenotype; copy number; 1q43 q44; brain abnormalities ... See more keywords