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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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| Publicado en: | BMC Med Genet |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BioMed Central
2017
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5709987/ https://ncbi.nlm.nih.gov/pubmed/29191162 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0501-9 |
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