Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth

PIK3CA‐related overgrowth spectrum is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic PIK3CA mutations. Here, we report clinical data and molecular findings from two patients with congenital muscular upper limb overgrowth and aberrant anatomy. During debulking s...

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Detalles Bibliográficos
Autores principales: Frisk, Sofia, Taylan, Fulya, Blaszczyk, Izabela, Nennesmo, Inger, Annerén, Göran, Herm, Bettina, Stattin, Eva‐Lena, Zachariadis, Vasilios, Lindstrand, Anna, Tesi, Bianca, Laurell, Tobias, Nordgren, Ann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851821/
https://www.ncbi.nlm.nih.gov/pubmed/30919936
http://dx.doi.org/10.1111/cge.13543

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851821/
https://www.ncbi.nlm.nih.gov/pubmed/30919936
http://dx.doi.org/10.1111/cge.13543

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