The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant

We report a patient with a germline RIT1 and a mosaic PIK3CA variant. The diagnosis of the RASopathy was confirmed by targeted sequencing following the identification of transient cardiomyopathy in a patient with PIK3CA-related overgrowth spectrum (PROS). Our observation confirms that the PIK3CA gai...

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Detalles Bibliográficos
Autores principales: Berland, Siren, Jareld, Jørgen, Hickson, Nicholas, Schlecht, Helene, Houge, Gunnar, Douzgou, Sofia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751416/
https://www.ncbi.nlm.nih.gov/pubmed/34887308
http://dx.doi.org/10.1101/mcs.a006121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751416/
https://www.ncbi.nlm.nih.gov/pubmed/34887308
http://dx.doi.org/10.1101/mcs.a006121

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