AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report
Abstract 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 o...
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| Auteurs principaux: | , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Wiley
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/20e8674bfaf2470dad3a62b2c1b596a3 |
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