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

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 arthrogr...

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Detalles Bibliográficos
Autores principales: Liu, Fang, Dai, Liying, Li, Zhi, Yin’s, Xiaowei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9879004/
https://www.ncbi.nlm.nih.gov/pubmed/36712877
http://dx.doi.org/10.3389/fgene.2022.989215

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9879004/
https://www.ncbi.nlm.nih.gov/pubmed/36712877
http://dx.doi.org/10.3389/fgene.2022.989215

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