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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| 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 |