PIK3CA-related overgrowth with an uncommon phenotype: case report

BACKGROUND: Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of disorders, now defined “PIK3CA-related overgrowth spectrum”. CASE PRESENTATION: We...

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Detalles Bibliográficos
Autores principales: Rotunno, Roberta, Diociaiuti, Andrea, Pisaneschi, Elisa, Carnevale, Claudia, Dentici, Marialisa, El Hachem, May
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097398/
https://www.ncbi.nlm.nih.gov/pubmed/35551640
http://dx.doi.org/10.1186/s13052-022-01268-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097398/
https://www.ncbi.nlm.nih.gov/pubmed/35551640
http://dx.doi.org/10.1186/s13052-022-01268-9

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