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Clinical manifestations and gene analysis of Hutchinson-Gilford progeria syndrome: A case report

BACKGROUND: This case report describes a child with Hutchinson-Gilford progeria syndrome (HGPS, OMIM: 176670) caused by LMNA (OMIM: 150330) gene mutation, and we have previously analyzed the clinical manifestations and imaging characteristics of this case. After 1-year treatment and follow-up, we fo...

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Detalles Bibliográficos
Autores principales: Zhang, Su-Li, Lin, Shuang-Zhu, Zhou, Yan-Qiu, Wang, Wan-Qi, Li, Jia-Yi, Wang, Cui, Pang, Qi-Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9198858/
https://www.ncbi.nlm.nih.gov/pubmed/35801028
http://dx.doi.org/10.12998/wjcc.v10.i15.5018