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Article

Novel variants of NEK9 associated with neonatal arthrogryposis: Two case reports and a literature review

4 Jan 2023

Abstract excerpt

Objective: Pathogenic variants in NEK9 (MIM: 609798) have been identified in patients with lethal congenital contracture syndrome 10 (OMIM: 617022) and arthrogryposis, Perthes disease, and upward gaze palsy (APUG and OMIM: 614262). The shared core phenotype is multiple joint contractures or arthrogryposis. In the present study, three novel variants of NEK9 associated with neonatal arthrogryposis were reported....

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Identifiers

PMID: 36712877
DOI: 10.3389/fgene.2022.989215

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