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
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Schuermans N et al.
Orphanet Journal of Rare Diseases, 2022
Clinical genetics of spondylocostal dysostosis: A mini review.
Umair M et al.
Frontiers in Genetics, 2022
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
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
McInerney-Leo AM et al.
Human Molecular Genetics, 2015
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