PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome

PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma (ARMS) developed in a patient presenting with intellectual disability and dysmorphic facial features. Whole exome sequencing analysis of a germline sample identified a PACS1 c.607 C>T de novo variant and the patient was diagnosed with Schuurs...

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Veröffentlicht in:	Journal of human genetics 2022-01, Vol.67 (1), p.51-54
Hauptverfasser:	Ohkawa, Teppei, Nishimura, Akira, Kosaki, Kenjiro, Aoki-Nogami, Yuki, Tomizawa, Daisuke, Kashimada, Kenichi, Morio, Tomohiro, Kato, Motohiro, Mizutani, Shuki, Takagi, Masatoshi
Format:	Artikel
Sprache:	eng
Schlagworte:	Alveoli Apoptosis Epigenetics FOXO1 protein Intellectual disabilities Malignancy Mutation Pax3 protein Rare diseases Rhabdomyosarcoma Sequence analysis Tumorigenesis
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