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

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

Abstract 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 ly...

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Bibliographic Details
Main Authors: Shengcai Wang, Wei Wang, Xuexi Zhang, Jingang Gui, Jie Zhang, Yongli Guo, Yuanhu Liu, Lin Han, Qiaoyin Liu, Yanzhen Li, Nian Sun, Zhiyong Liu, Jiangnan Du, Jun Tai, Xin Ni
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Lymphatic malformations
Whole-exome sequencing
PIK3CD
Novel mutations
MTOR pathway
Online Access:https://doi.org/10.1186/s13023-021-01782-9

Internet

https://doi.org/10.1186/s13023-021-01782-9

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