Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report

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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Bibliographic Details
Main Authors: Yahong Li, Dingyuan Ma, Yun Sun, Lulu Meng, Yanyun Wang, Tao Jiang
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-05-01
Series:Frontiers in Genetics
Subjects:
Apert syndrome
craniosynostosis
FGFR2
genetic mutation
exons sequencing
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2018.00181/full

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http://journal.frontiersin.org/article/10.3389/fgene.2018.00181/full

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