A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation

BACKGROUND: Lymphatic malformations (LMs) are benign congenital malformations that stem from the abnormal development of the lymphatic vessels during early embryogenesis. Somatic PIK3CA gene mutations are conventional cause leading to LMs. Both macrocystic and microcystic LMs arise due to lymphatic...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Wang, Shengcai, Wang, Wei, Zhang, Xuexi, Gui, Jingang, Zhang, Jie, Guo, Yongli, Liu, Yuanhu, Han, Lin, Liu, Qiaoyin, Li, Yanzhen, Sun, Nian, Liu, Zhiyong, Du, Jiangnan, Tai, Jun, Ni, Xin
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8106842/
https://ncbi.nlm.nih.gov/pubmed/33964933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01782-9
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