Early-onset ophthalmoplegia, cervical dyskinesia, and lower extremity weakness due to partial deletion of chromosome 16: A case report

BACKGROUND: We explored the genotype-phenotype correlation of the novel deletion 16p13.2p12.3 in an 8-year-old child with progressive total ophthalmoplegia, cervical dyskinesia, and lower limb weakness by comparing the patient’s clinical features with previously reported data on adjacent copy number...

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Detalles Bibliográficos
Autores principales: Xu, Min, Jiang, Jiao, He, Yan, Gu, Wei-Yue, Jin, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9477676/
https://www.ncbi.nlm.nih.gov/pubmed/36159412
http://dx.doi.org/10.12998/wjcc.v10.i26.9332

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9477676/
https://www.ncbi.nlm.nih.gov/pubmed/36159412
http://dx.doi.org/10.12998/wjcc.v10.i26.9332

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