A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2

ConclusionOur patient's clinical features appear to be influenced by thePLP1 duplication but the clinical effect of other dosage sensitive genes influencing brain development cannot be ruled out.

Source: Molecular Genetics & Genomic Medicine - January 16, 2020 Category: Genetics & Stem Cells Authors: Swati R. Chanchani, Hongyan Xie, Gurbax Sekhon, Ana M. Melikishvili, Sue Moyer Harasink, Harpreet Pall, Philip F. Giampietro Tags: ORIGINAL ARTICLE Source Type: research