Two novel variants of the PHEX gene in patients with X-linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families

por Liao, Hong, Zhu, Hong-Mei, Liu, Hong-Qian, Li, Ling-Ping, Liu, Shan-Ling, Wang, He
Publicado 2018

Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report

por Zou, Ting-Ting, Sun, Hua-Qin, Zhu, Yu, He, Tian-Tian, Ling, Wen-Wu, Zhu, Hong-Mei, Lin, Zi-Yuan, Liu, Yan-Yan, Liu, Shan-Ling, Wang, He, Zhang, Xue-Mei
Publicado 2022