Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report

Fetal cardiac tumors are often the first clinical manifestation of tuberous sclerosis (TS) when fetal ultrasound screening is performed. TS is an autosomal dominant disorder caused by the mutations in TSC1 or TSC2 genes. Here we report a case of a patient with a fetal and neonatal cardiac tumor who...

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Autors principals:	Aya Kawasaki, MD, Hidefumi Tonoki, MD, PhD, Osamu Sasaki, MD, PhD, Yoko Matsushita, MD, PhD, Michiko Watari, MD, PhD, Nobuhiro Takahashi, MD, Satoko Fujieda, MD
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2025-03-01
Col·lecció:	Radiology Case Reports
Matèries:	Fetal cardiac tumor Rhabdomyomas TSC1 or TSC2 gene Tuberous sclerosis (TS)
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S1930043324013281
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