Novel variants of NEK9 associated with neonatal arthrogryposis: Two case reports and a literature review
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DOI: 10.3389/fgene.2022.989215
Abstract: 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… read more here.
Keywords: novel variants; variants nek9; nek9 associated; neonatal arthrogryposis ... See more keywords