The mutational burden and oligogenic inheritance in Klippel-Feil syndrome

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome

Abstract Background Klippel-Feil syndrome (KFS) represents a rare anomaly characterized by congenital fusion of the cervical vertebrae. The underlying molecular etiology remains largely unknown because of the genetic and phenotypic heterogeneity. Methods We consecutively recruited a Chinese cohort o...

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Bibliographic Details
Main Authors: Ziquan Li, Sen Zhao, Siyi Cai, Yuanqiang Zhang, Lianlei Wang, Yuchen Niu, Xiaoxin Li, Jianhua Hu, Jingdan Chen, Shengru Wang, Huizi Wang, Gang Liu, Ye Tian, Zhihong Wu, Terry Jianguo Zhang, DISCO (Deciphering Disorders Involving Scoliosis and COmorbidities) study, Yipeng Wang, Nan Wu
Format: Article
Language:English
Published: BMC 2020-04-01
Series:BMC Musculoskeletal Disorders
Subjects:
Klippel-Feil syndrome
Whole-exome sequencing
Genetic burden analysis
Genetic mutational spectrum
Oligogenic inheritance
Online Access:http://link.springer.com/article/10.1186/s12891-020-03229-x

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http://link.springer.com/article/10.1186/s12891-020-03229-x

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