Article

The mutational burden and oligogenic inheritance in Klippel-Feil Syndrome

2020-02-28

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Klippel-Feil syndrome (KFS) represents a rare anomaly characterized by congenital fusion of cervical vertebrae. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. <bold>Methods:</bold> We consecutively recruited a Chinese cohort of 37 patients with KFS. The clinical manifestations and radiological assessmen...

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Literature Corpus work: cab5134e-3ecf-5565-a6ea-d622be858f66
DOI: 10.21203/rs.3.rs-15468/v1

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