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Article

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

Journal of human genetics - 1 Jan 2022

Ohkawa Teppei, Nishimura Akira, Kosaki Kenjiro, Aoki-Nogami Yuki, Tomizawa Daisuke, Kashimada Kenichi, Morio Tomohiro, Kato Motohiro, Mizutani Shuki, Takagi Masatoshi

Abstract excerpt

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-Hoeijmakers syndrome (SHS). SHS is a rare disease characterized by intellectual disability and dysmorphic facial...

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PMID: 34341476
DOI: 10.1038/s10038-021-00965-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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