An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report

Pathogenic variation of the MECP2 gene presents mostly as Rett syndrome in females and is extremely rare in males. Most male patients with MECP2 gene mutation show MECP2 duplication syndrome.

Source: BMC Medical Genomics - August 3, 2023 Category: Genetics & Stem Cells Authors: Jianmin Liang, Cuijuan Xin, Meiying Xin, Guangliang Wang and Xuemei Wu Tags: Case Report Source Type: research