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Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report
Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene. Case report: Here, we described a Apert syndrome case, who was referred to genetic consultation...
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| Publicat a: | Front Genet |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5966571/ https://ncbi.nlm.nih.gov/pubmed/29868125 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00181 |
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