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Nonsyndromic Craniosynostosis: Novel Coding Variants
BACKGROUND: Craniosynostosis (CS), the premature fusion of one or more neurocranial sutures, is associated with approximately 200 syndromes; however, about 65%−85% of patients present with no additional major birth defects. METHODS: We conducted targeted next-generation sequencing of 60 known syndro...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398438/ https://www.ncbi.nlm.nih.gov/pubmed/30651579 http://dx.doi.org/10.1038/s41390-019-0274-2 |