GeneticsGenetics in MedicinePeer-reviewed
CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
Lara Rodríguez‐Laguna, Kristina Ibáñez, Gema Gordo…·Víctor Martínez‐Glez
The paper identifies somatic activating PIK3CA mutations in CLAPO syndrome patients and updates the syndrome's phenotype and natural history.
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