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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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Detaylı Bibliyografya
Yayımlandı:Front Genet
Asıl Yazarlar: Li, Yahong, Ma, Dingyuan, Sun, Yun, Meng, Lulu, Wang, Yanyun, Jiang, Tao
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2018
Konular:
Online Erişim: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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