Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report

por Tao, Dong-Ying, Niu, Huan-Hong, Zhang, Jing-Jing, Zhang, Hui-Qin, Zeng, Ming-Hua, Cheng, Sheng-Quan
Publicado 2022

PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report

por Tao, DongYing, Zhang, HuiQin, Yang, Jingmin, Niu, HuanHong, Zhang, JingJing, Zeng, Minghua, Cheng, ShengQuan
Publicado 2022