Genetic insights into the 'sandwich fusion' subtype of Klippel-Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing.
Xu N, Hung KL, Gong X, Fan D, Tian Y, Yan M, Wei Y, Wang S. Orphanet J Rare Dis. 2024 Apr 1; 19(1):141. Epub 2024 Apr 1.