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A Mosaic PIK3CA Mutation in a Moroccan Female: Exploring the Diagnostic Challenges of PIK3CA-Related Overgrowth Spectrum

The PIK3CA-related overgrowth spectrum (PROS) encompasses a group of rare disorders characterized by the overgrowth of various body parts, driven by mutations in the PIK3CA gene. This study presents a case of a Moroccan female patient with PROS, demonstrating a phenotype associated with genetic mosa...

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Detalles Bibliográficos
Autores principales: Ahakoud, Mohamed, Daha Belghiti, Hanae, Ihlal, Hajar, Bouguenouch, Laila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10150574/
https://www.ncbi.nlm.nih.gov/pubmed/37139028
http://dx.doi.org/10.7759/cureus.36996