Cargando…
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...
Autores principales: | Mao, Shanshan, Long, Qi, Lin, Huijia, Liu, Jinling |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2017
|
Materias: | |
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 |
Ejemplares similares
-
Tuberous sclerosis with rhabdomyoma
por: Ajay, V., et al.
Publicado: (2013) -
Cardiac rhabdomyomas as prenatal diagnostic markers of tuberous sclerosis complex()
por: Gamboa, Virginia Ruth Lopez, et al.
Publicado: (2023) -
Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature
por: Frudit, Paula, et al.
Publicado: (2019) -
Effect and Complications of Everolimus Use for Giant Cardiac Rhabdomyomas with Neonatal Tuberous Sclerosis
por: Shibata, Yuka, et al.
Publicado: (2019) -
Sirolimus in Infants with Multiple Cardiac Rhabdomyomas Associated with Tuberous Sclerosis Complex
por: Lucchesi, Maurizio, et al.
Publicado: (2018)