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

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

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...

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Bibliographic Details
Main Authors: Eleanor G. Seaby, Rodney D. Gilbert, Gaia Andreoletti, Reuben J. Pengelly, Catherine Mercer, David Hunt, Sarah Ennis
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-05-01
Series:Frontiers in Pediatrics
Subjects:
aHUS
genomics
JMML
preclinical cancer
whole-exome sequencing
Online Access:http://journal.frontiersin.org/article/10.3389/fped.2017.00113/full

Internet

http://journal.frontiersin.org/article/10.3389/fped.2017.00113/full

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