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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Autores principales: Mostafa Neissi, Hadideh Mabudi, Javad Mohammadi‐Asl
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
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R
Acceso en línea:https://doaj.org/article/20e8674bfaf2470dad3a62b2c1b596a3
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