Article

CLAPO syndrome: Identification of somatic activating <i>PIK3CA</i> mutations and delineation of the natural history and phenotype

2017-06-26

Abstract excerpt

<h4>Background</h4> CLAPO syndrome is a rare vascular disorder characterized by Capillary malformation of the lower lip, Lymphatic malformation predominant on the face and neck, Asymmetry, and Partial/generalized Overgrowth. Although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism. <h4>Subjects and methods</h4> We clin...

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Literature Corpus work: 0e05f76e-4e67-564b-925e-0fa8009c29a1
DOI: 10.1101/154591

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