A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.

doi:10.1111/cge.14027

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Article

A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.

Clinical genetics - 1 Jan 2022

Douzgou Sofia, Rawson Myfanwy, Baselga Eulalia, Danielpour Moise, Faivre Laurence, Kashanian Alon, Keppler-Noreuil Kim M, Kuentz Paul, Mancini Grazia M S, Maniere Marie-Cecile, Martinez-Glez Victor, Parker Victoria E, Semple Robert K, Srivastava Siddharth, Vabres Pierre, De Wit Marie-Claire Y, Graham John M, Clayton-Smith Jill, Mirzaa Ghayda M, Biesecker Leslie G

Abstract excerpt

Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These phenotypically heterogeneous entities have been grouped as PIK3CA-Related Overgrowth Spectrum disorders (PROS). Deep sequencing technologies have facilitated detection of low-level mosaic, often necessitating testing of tissues other than blood. Since...

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PMID: 34240408
DOI: 10.1111/cge.14027
PMCID: PMC8664971

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