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

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) chromo...

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Detalles Bibliográficos
Autores principales: Tan, Li, Bi, Bo, Zhao, Peiwei, Cai, Xiaonan, Wan, Chunhui, Shao, Jianbo, He, Xuelian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709987/
https://www.ncbi.nlm.nih.gov/pubmed/29191162
http://dx.doi.org/10.1186/s12881-017-0501-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709987/
https://www.ncbi.nlm.nih.gov/pubmed/29191162
http://dx.doi.org/10.1186/s12881-017-0501-9

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