An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report
Abstract Background 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. Case presentation Here we report a rare case in a 10-month-old boy with a hemizygous ins...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
BMC,
2023-08-01T00:00:00Z.
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