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Article

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

BMC medical genetics - 1 Dec 2017

Tan Li, Bi Bo, Zhao Peiwei, Cai Xiaonan, Wan Chunhui, Shao Jianbo, He Xuelian

Abstract excerpt

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) chromosomal microarray analysis (CMA) and muation screening of NDE1 gene were performed in an 8-month patient with severe...

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Identifiers

PMID: 29191162
DOI: 10.1186/s12881-017-0501-9
PMCID: PMC5709987

Genes

NDE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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