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

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

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)...

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Bibliographic Details
Main Authors: Li Tan, Bo Bi, Peiwei Zhao, Xiaonan Cai, Chunhui Wan, Jianbo Shao, Xuelian He
Format: Article
Language:English
Published: BMC 2017-12-01
Series:BMC Medical Genetics
Subjects:
Microcephaly
NDE1
16p13.11 microdeletion
Agenesis of corpus callosum
Online Access:http://link.springer.com/article/10.1186/s12881-017-0501-9

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http://link.springer.com/article/10.1186/s12881-017-0501-9

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