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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Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2021
Konular:
Research
Online Erişim: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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