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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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2021
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Research
On-line přístup: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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