Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

BACKGROUND: Activating pathogenic variants in PIK3CA gene usually occur at a mosaic status and underlie a variety of segmental overgrowth phenotypes. Germline variants in PIK3CA have been rarely reported, described in a total of 12 patients with macrocephaly to date. Clinical and prognostic features...

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Detalles Bibliográficos
Autores principales: Zollino, Marcella, Ranieri, Carlotta, Grossi, Valentina, Leoni, Chiara, Lattante, Serena, Mazzà, Daniela, Simone, Cristiano, Resta, Nicoletta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687641/
https://www.ncbi.nlm.nih.gov/pubmed/31290289
http://dx.doi.org/10.1002/mgg3.845

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