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Article

Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.

Clinical genetics - 1 Apr 2021

Wegler Meret, Roth Christian, Schumann Eckehard, Kogan Jillene, Totten Ellen, Guillen Sacoto Maria J, Abou Jamra Rami, Hornemann Frauke

Abstract excerpt

RIPPLY2 is an essential part of the formation of somite patterning during embryogenesis and in establishment of rostro-caudal polarity. Here, we describe three individuals from two families with compound-heterozygous variants in RIPPLY2 (NM_001009994.2): c.238A > T, p.(Arg80*) and c.240-4 T > G, p.(?), in two 15 and 20-year-old sisters, and a homozygous nonsense variant, c.238A > T, p.(Arg80*), in an 8 year old...

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PMID: 33410135
DOI: 10.1111/cge.13916

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