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AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report
This point of detected mutation could be considered as a novel mutational hotspot point that carried in patient ancestors. Moreover, the obtained results and family history suggest a precise genetic consulting and molecular prenatal evaluation for suspect individuals with a family history of mental...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8538011/ https://www.ncbi.nlm.nih.gov/pubmed/34721863 http://dx.doi.org/10.1002/ccr3.5002 |