Ontology highlight
ABSTRACT:
SUBMITTER: Douzgou S
PROVIDER: S-EPMC8664971 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
Douzgou Sofia S Rawson Myfanwy M Baselga Eulalia E Danielpour Moise M Faivre Laurence L Kashanian Alon A Keppler-Noreuil Kim M KM Kuentz Paul P Mancini Grazia M S GMS Maniere Marie-Cecile MC Martinez-Glez Victor V Parker Victoria E VE Semple Robert K RK Srivastava Siddharth S Vabres Pierre P De Wit Marie-Claire Y MY Graham John M JM Clayton-Smith Jill J Mirzaa Ghayda M GM Biesecker Leslie G LG
Clinical genetics 20210716 1
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 clinical management practices vary considerably among healthcare professionals and se ...[more]