Article
Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.
Gene - 30 Jan 2018
Xu Yufei, Sun Shouqing, Li Niu, Yu Tingting, Wang Xiumin, Wang Jian, Bao Nan
Abstract excerpt
Syndromic craniosynostosis is a group of multiple conditions with high heterogeneity, and many rare syndromes still remain to be characterized. To identify and analyze causative genetic variants in nine unrelated probands mainly manifested as syndromic craniosynostosis, we reviewed the relevant medical information of the patients and performed the whole exome sequencing, further verified with Sanger sequencing...
Topics
- Adaptor Proteins, Signal Transducing
- Amino Acid Sequence
- Base Sequence
- Cell Cycle Proteins
- Child
- Child, Preschool
- Chromosomal Proteins, Non-Histone
- Craniosynostoses
- Cytoskeletal Proteins
- De Lange Syndrome
- Female
- Frameshift Mutation
- Gene Frequency