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

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

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 technolog...

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Main Authors: Baselga, E. (Author), Biesecker, L.G (Author), Clayton-Smith, J. (Author), Danielpour, M. (Author), De Wit, M.-C.Y (Author), Douzgou, S. (Author), Faivre, L. (Author), Graham, J.M., Jr (Author), Kashanian, A. (Author), Keppler-Noreuil, K.M (Author), Kuentz, P. (Author), Mancini, G.M.S (Author), Maniere, M.-C (Author), Martinez-Glez, V. (Author), Mirzaa, G.M (Author), Parker, V.E (Author), Rawson, M. (Author), Semple, R.K (Author), Srivastava, S. (Author), Vabres, P. (Author)
Format: Article
Language:English
Published: John Wiley and Sons Inc 2022
Subjects:
Class I Phosphatidylinositol 3-Kinases
clinical management
consensus development
Consensus Development Conferences as Topic
Diagnosis, Differential
differential diagnosis
disease management
Disease Management
expert consensus
Genetic Association Studies
genetic association study
genetic predisposition
Genetic Predisposition to Disease
genetic screening
Genetic Testing
genetics
growth disorder
Growth Disorders
health care quality
human
Humans
mosaic
phenotype
Phenotype
phosphatidylinositol 4,5 bisphosphate 3 kinase
PIK3CA protein, human
PIK3CA-related overgrowth spectrum
prenatal diagnosis
Prenatal Diagnosis
procedures
Standard of Care
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