CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

doi:10.1038/gim.2017.200

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Article

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2018

Rodriguez-Laguna Lara, Ibañez Kristina, Gordo Gema, Garcia-Minaur Sixto, Santos-Simarro Fernando, Agra Noelia, Vallespín Elena, Fernández-Montaño Victoria E, Martín-Arenas Rubén, Del Pozo Ángela, González-Pecellín Héctor, Mena Rocío, Rueda-Arenas Inmaculada, Gomez María V, Villaverde Cristina, Bustamante Ana, Ayuso Carmen, Ruiz-Perez Víctor L, Nevado Julián, Lapunzina Pablo, Lopez-Gutierrez Juan C, Martinez-Glez Victor

Abstract excerpt

PURPOSE: 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. Here we tested the hypothesis that, although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism. METHODS: We...

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PMID: 29446767
DOI: 10.1038/gim.2017.200

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CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.PMID 29446767Read ↗

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