FGFR3基因R248C突变致不成比例矮小伴特殊面容和黑棘皮病一例及文献复习
张娟娟, 张婉玉, 韩晓伟, 肖园, 陆文丽, 吕圣
Craniofacial features with disproportionate short stature and acanthosis nigricans caused by a R248C mutation in FGFR3: A case report and literature review
ZHANG Juanjuan, ZHANG Wanyu, HAN Xiaowei, XIAO Yuan, LU Wenli, LÜ Sheng
诊断学理论与实践 . 2020, (02): 129 -134 .  DOI: 10.16150/j.1671-2870.2020.02.006