Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

por Liu, Jun, Hu, Xu-Yun, Zhao, Zhi-Peng, Guo, Ruo-Lan, Guo, Jun, Li, Wei, Hao, Chan-Juan, Xu, Bao-Ping
Publicado 2019

A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema

por Ding, Yuan, Hu, Xu-Yun, Song, Yan-Ning, Cao, Bing-Yan, Liang, Xue-Jun, Li, Hong-Dou, Fan, Xin, Chen, Shao-Ke, Shen, Yi-Ping, Gong, Chun-Xiu
Publicado 2019