Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan–McDermid syndrome: a case report and systematic review

Atypical teratoid/rhabdoid tumor (AT/RT) is a rare pediatric brain tumor with abnormalities in SMARCB1 located in 22q11.2. We report a case of AT/RT associated with Phelan–McDermid syndrome (PMS) characterized by congenital developmental disorder, mental retardation, and ring chromosome 22 with 22q1...

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Veröffentlicht in:	Brain tumor pathology 2022-10, Vol.39 (4), p.232-239
Hauptverfasser:	Yamashita, Haruki, Arakawa, Yoshiki, Terada, Yukinori, Takeuchi, Yasuhide, Mineharu, Yohei, Sumiyoshi, Sosuke, Tokunaga, Shinya, Nakajima, Kohei, Kawabata, Naoko, Tanaka, Kuniaki, Tanji, Masahiro, Umeda, Katsutsugu, Minamiguchi, Sachiko, Ogawa, Seishi, Haga, Hironori, Takita, Junko, Miyamoto, Susumu
Format:	Artikel
Sprache:	eng
Schlagworte:	Calcification Cancer Research Case Report Chromosomes Genomes Magnetic resonance imaging Medicine Medicine & Public Health Microcephaly Mutation Neurology Neurosurgery Oncology Pathology Stem cells Systematic review Tomography Tumorigenesis Tumors
Online-Zugang:	Volltext
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