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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

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