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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Bibliografiset tiedot
Julkaisussa:Eur J Hum Genet
Päätekijät: Crivelli, Louise, Bubien, Virginie, Jones, Natalie, Chiron, Jennifer, Bonnet, Françoise, Barouk-Simonet, Emmanuelle, Couzigou, Patrice, Sevenet, Nicolas, Caux, Frédéric, Longy, Michel
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2017
Aiheet:
Short Report
Linkit: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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