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Article

Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.

American journal of medical genetics. Part A - 1 Jun 2020

Serey-Gaut Margaux, Scala Marcello, Reversade Bruno, Ruaud Lyse, Cabrol Christelle, Musacchia Francesco, Torella Annalaura, Accogli Andrea, Escande-Beillard Nathalie, Langlais Jean, Piatelli Gianluca, Consales Alessandro, Nigro Vincenzo, Capra Valeria, Van Maldergem Lionel

Abstract excerpt

The clinical and radiological spectrum of spondylocostal dysostosis syndromes encompasses distinctive costo-vertebral anomalies. RIPPLY2 biallelic pathogenic variants were described in two distinct cervical spine malformation syndromes: Klippel-Feil syndrome and posterior cervical spine malformation. RIPPLY2 is involved in the determination of rostro-caudal polarity and somite patterning during development. To...

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PMID: 32212228
DOI: 10.1002/ajmg.a.61549

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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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