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Genetic Insights into the 'Sandwich Fusion' Subtype of Klippel-Feil Syndrome: Novel FGFR2 Mutations Identified by 21 cases of Whole-Exome Sequencing

2023-11-23

Abstract excerpt

<title>Abstract</title> <p>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 associated with KFS, they account for only a small proportion of cases. Among the distinct subtypes of...

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Literature Corpus work: ad2af2b6-9de7-5b71-abdb-8886ea186053
DOI: 10.21203/rs.3.rs-3390180/v1

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