Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment:A case rep

• 作 者: Jin-Rong Li Zhuo Huang You Lu
• 机 构: DepartmentofPediatrics,DepartmentofMinistryofEducation
• 出 处: 世界临床病例杂志
• 发表日期: 2020年24期
• 关键词: Bainbridge-Ropers syndrome ASXL3 mutation Whole-exome sequencing Case report
• 基金项目: Supported by the Health andFamily Planning Commission ofSichuan Province, No. 150106.

BACKGROUND Bainbridge-Ropers syndrome (BRPS) is a severe disorder characterized by failureto thrive, facial dysmorphism, and severe developmental delay. BRPS is caused bya heterozygous loss-of-function mutation in the ASXL3 gene. Due to limitedknowledge o