Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm

• Главные авторы: Eleanor G. Seaby (Автор), Rodney D. Gilbert (Автор), Gaia Andreoletti (Автор), Reuben J. Pengelly (Автор), Catherine Mercer (Автор), David Hunt (Автор), Sarah Ennis (Автор)
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• Опубликовано: Frontiers Media S.A., 2017-05-01T00:00:00Z.
• Предметы: article
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CBL is a tumor suppressor gene on chromosome 11 encoding a multivalent adaptor protein with E3 ubiquitin ligase activity. Germline CBL mutations are dominant. Pathogenic de novo mutations result in a phenotype that overlaps Noonan syndrome (1). Some patients with CBL mutations go on to develop juven...