Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

PURPOSE: PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants. PIK3CA encodes the p110α catalytic subunit of phosphatidylinositol-3-kinase (PI3K), a critical transducer of growth factor s...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Genet Med
Hoofdauteurs: Parker, Victoria E. R., Keppler-Noreuil, Kim M., Faivre, Laurence, Luu, Maxime, Oden, Neal L., De Silva, Leena, Sapp, Julie C., Andrews, Katrina, Bardou, Marc, Chen, Kong Y., Darling, Thomas N., Gautier, Elodie, Goldspiel, Barry R., Hadj-Rabia, Smail, Harris, Julie, Kounidas, Georgios, Kumar, Parag, Lindhurst, Marjorie J., Loffroy, Romaric, Martin, Ludovic, Phan, Alice, Rother, Kristina I., Widemann, Brigitte C., Wolters, Pamela L., Coubes, Christine, Pinson, Lucile, Willems, Marjolaine, Vincent-Delorme, Catherine, Vabres, Pierre, Semple, Robert K., Biesecker, Leslie G.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group US 2018
Onderwerpen:
Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6752269/
https://ncbi.nlm.nih.gov/pubmed/30270358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0297-9
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items