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 and physical abnormalities. AbstractThis 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 and physical abnormalities.

Source: Clinical Case Reports - October 23, 2021 Category: General Medicine Authors: Mostafa Neissi, Hadideh Mabudi, Javad Mohammadi ‐Asl Tags: CASE REPORT Source Type: research