PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome
PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome
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Publisher
England: Nature Publishing Group
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English
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England: Nature Publishing Group
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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 ch...
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PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome
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TN_cdi_proquest_journals_2616475697
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2616475697
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-021-00965-3
