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Article

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

Orphanet journal of rare diseases - 1 Apr 2024

Xu Nanfang, Hung Kan-Lin, Gong Xiaoli, Fan Dongwei, Tian Yinglun, Yan Ming, Wei Yuan, Wang Shenglin

Abstract excerpt

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 KFS, "sandwich fusion"...

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Source

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Identifiers

PMID: 38561822
DOI: 10.1186/s13023-024-03134-9
PMCID: PMC10985996

Genes

FGFR2
PAX1
MYO18B
C2
GDF3
GDF6
MEOX1
RIPPLY2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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