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Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature

BACKGROUND: Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a rare genetic disease worldwide. The main mutation is the actin alpha 2 (ACTA2) gene p.R179H. In this paper, we report a Chinese MSMDS patient and systematically review the previous literature. CASE SUMMARY: Here, we report a 9...

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Detalles Bibliográficos
Autores principales: Chen, Sai-Nan, Wang, Yu-Qing, Hao, Chuang-Li, Lu, Yan-Hong, Jiang, Wu-Jun, Gao, Chun-Yan, Wu, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6940346/
https://www.ncbi.nlm.nih.gov/pubmed/31911919
http://dx.doi.org/10.12998/wjcc.v7.i24.4355