The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations

Background: CODAS syndrome (MIM 600373) is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is rare in the world and no cases have been reported in Chinese population so far. Mutations in the LONP1 gene can contribute...

Descripción completa

Detalles Bibliográficos
Autores principales: Tang, Yi, Liu, Yu-Xing, Sheng, Yue, Fan, Liang-Liang, Zhang, Ai-Qian, Zheng, Zhao-Fen
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/PMC9845248/
https://www.ncbi.nlm.nih.gov/pubmed/36685982
http://dx.doi.org/10.3389/fgene.2022.1031856

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845248/
https://www.ncbi.nlm.nih.gov/pubmed/36685982
http://dx.doi.org/10.3389/fgene.2022.1031856

Ejemplares similares