Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies

BACKGROUND: Megalencephaly-capillary malformation (MCAP) is a rare overgrowth syndrome caused by postzygotic activating mutations in the PIK3CA gene. AIM: To illustrate the benefits of gingival biopsy in the genetic diagnosis of overgrowth syndromes. DESIGN: Gingival biopsy was performed on a 13-yea...

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Detalles Bibliográficos
Autores principales: Marty, Mathieu, Bonnaud, Carole, Jones, Natalie, Longy, Michel, Vaysse, Frédéric, Bieth, Eric, Bailleul-Forestier, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7509567/
https://www.ncbi.nlm.nih.gov/pubmed/33005459
http://dx.doi.org/10.1155/2020/8826945

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