Associated Papers
Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6.
van der Vlis TAMB et al.
Spine Deformity, 2024
Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.
Wegler M et al.
Clinical Genetics, 2021
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
Serey-Gaut M et al.
American Journal of Medical Genetics. Part A, 2020
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
Li Z et al.
Bmc Musculoskeletal Disorders, 2020
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
Karaca E et al.
American Journal of Medical Genetics. Part A, 2015
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