Molecular diagnosis of somatic overgrowth conditions: A single‐center experience

BACKGROUND: Somatic overgrowth conditions, including Proteus syndrome, Sturge–Weber syndrome, and PIK3CA‐related overgrowth spectrum, are caused by post‐zygotic pathogenic variants, result in segmental mosaicism, and give rise to neural, cutaneous and/or lipomatous overgrowth. These variants occur i...

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Detalles Bibliográficos
Autores principales: Lalonde, Emilie, Ebrahimzadeh, Jessica, Rafferty, Keith, Richards‐Yutz, Jennifer, Grant, Richard, Toorens, Erik, Marie Rosado, Jennifer, Schindewolf, Erica, Ganguly, Tapan, Kalish, Jennifer M., Deardorff, Matthew A., Ganguly, Arupa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418364/
https://www.ncbi.nlm.nih.gov/pubmed/30761771
http://dx.doi.org/10.1002/mgg3.536

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418364/
https://www.ncbi.nlm.nih.gov/pubmed/30761771
http://dx.doi.org/10.1002/mgg3.536

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