Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review

• Main Authors: Li Tan (Author), Bo Bi (Author), Peiwei Zhao (Author), Xiaonan Cai (Author), Chunhui Wan (Author), Jianbo Shao (Author), Xuelian He (Author)
• 格式: 图书
• 出版: BMC, 2017-12-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

Abstract Background Microcephaly is a disorder characterized by severe impairment in brain development, reduced brain and head size. Congenital severe microcephaly is very rare, and NDE1 deletion and genetic mutations are important contributors. Case presentation Single nucleotide polymorphism (SNP)...