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KIAA1217 : A novel candidate gene associated with isolated and syndromic vertebral malformations

5 May 2020

Abstract excerpt

Vertebral malformations (VMs) are caused by alterations in somitogenesis and may occur in association with other congenital anomalies. The genetic etiology of most VMs remains unknown and their identification may facilitate the development of novel therapeutic and prevention strategies. Exome sequencing was performed on both the discovery cohort of nine unrelated probands from the USA with VMs and the replication...

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PMID: 32369272
DOI: 10.1002/ajmg.a.61607

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