A novel non-sense variant in the OFD1 gene caused Joubert syndrome

Background: Joubert syndrome (JBS) is a rare neurodevelopmental disorder associated with progressive renal, liver, and retinal involvement that exhibits heterogeneity in both clinical manifestations and genetic etiology. Therefore, it is difficult to make a definite prenatal diagnosis. Methods: Whol...

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Detalles Bibliográficos
Autores principales: Li, Chen, Wang, Xingwang, Li, Fake, Ding, Hongke, Liu, Ling, Xiong, Ying, Yang, Chaoxiang, Zhang, Yan, Wu, Jing, Yin, Aihua
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/PMC9871390/
https://www.ncbi.nlm.nih.gov/pubmed/36704348
http://dx.doi.org/10.3389/fgene.2022.1064762

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