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

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 insertion...

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Detalles Bibliográficos
Autores principales: Liang, Jianmin, Xin, Cuijuan, Xin, Meiying, Wang, Guangliang, Wu, Xuemei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10398912/
https://www.ncbi.nlm.nih.gov/pubmed/37537631
http://dx.doi.org/10.1186/s12920-023-01616-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10398912/
https://www.ncbi.nlm.nih.gov/pubmed/37537631
http://dx.doi.org/10.1186/s12920-023-01616-6

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