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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Detalles Bibliográficos
Autores principales: Seaby, Eleanor G., Gilbert, Rodney D., Andreoletti, Gaia, Pengelly, Reuben J., Mercer, Catherine, Hunt, David, Ennis, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5438966/
https://www.ncbi.nlm.nih.gov/pubmed/28589114
http://dx.doi.org/10.3389/fped.2017.00113

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