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

• Main Authors: Eleanor G. Seaby (Author), Rodney D. Gilbert (Author), Gaia Andreoletti (Author), Reuben J. Pengelly (Author), Catherine Mercer (Author), David Hunt (Author), Sarah Ennis (Author)
• Format: Book
• Published: Frontiers Media S.A., 2017-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...