Rapamycin therapy for neonatal tuberous sclerosis complex with cardiac rhabdomyomas: A case report and review

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease that varies greatly in its expression. The current study reports a novel case of TSC caused by a TSC2 mutation (TSC2c.1642_1643insA or TSC2p.K549fsX589), in which multiple cardiac rhabdomyomas were detected by fetal echocardio...

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Detalles Bibliográficos
Autores principales: Mao, Shanshan, Long, Qi, Lin, Huijia, Liu, Jinling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740740/
https://www.ncbi.nlm.nih.gov/pubmed/29285173
http://dx.doi.org/10.3892/etm.2017.5335

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740740/
https://www.ncbi.nlm.nih.gov/pubmed/29285173
http://dx.doi.org/10.3892/etm.2017.5335

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