Genetic insights into the ‘sandwich fusion’ subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing

Genetic insights into the ‘sandwich fusion’ subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing

Abstract Background Klippel–Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of two or more cervical vertebrae during early prenatal development. This fusion results from a failure of segmentation during the first trimester. Although six genes have previously been associ...

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Bibliographic Details
Main Authors: Nanfang Xu, Kan-Lin Hung, Xiaoli Gong, Dongwei Fan, Yinglun Tian, Ming Yan, Yuan Wei, Shenglin Wang
Format: Article
Language:English
Published: BMC 2024-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Klippel–Feil syndrome
Atlantoaxial dislocation
Whole-exome sequencing
FGFR2
Online Access:https://doi.org/10.1186/s13023-024-03134-9

Internet

https://doi.org/10.1186/s13023-024-03134-9

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