Insertion of Alu elements at a PTEN hotspot in Cowden syndrome

Cowden syndrome (CS) is an inherited autosomal dominant disorder associated with germline pathogenic variants of the PTEN tumor suppressor gene. Its phenotypical expression is highly variable and the existence of patients with a CS suggestive phenotype without pathogenic PTEN variant may be related...

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Bibliografische gegevens
Gepubliceerd in:Eur J Hum Genet
Hoofdauteurs: Crivelli, Louise, Bubien, Virginie, Jones, Natalie, Chiron, Jennifer, Bonnet, Françoise, Barouk-Simonet, Emmanuelle, Couzigou, Patrice, Sevenet, Nicolas, Caux, Frédéric, Longy, Michel
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2017
Onderwerpen:
Short Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5558175/
https://ncbi.nlm.nih.gov/pubmed/28513612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.81
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