AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report

被引：5

作者：

Neissi, Mostafa ^{[1
,2
]}

Mabudi, Hadideh ^{[2
]}

Mohammadi-Asl, Javad ^{[2
,3
]}

机构：

[1] Islamic Azad Univ, Dept Genet, Khuzestan Sci & Res Branch, Ahvaz, Iran

[2] Islamic Azad Univ, Dept Genet, Ahvaz Branch, Ahvaz, Iran

[3] Ahvaz Jundishapur Univ Med Sci, Sch Med, Dept Med Genet, Ahvaz, Iran

来源：

CLINICAL CASE REPORTS | 2021年 / 9卷 / 10期

关键词：

AHI1; gene; Joubert syndrome; mutation; ABNORMAL EYE-MOVEMENTS; ATAXIA; VERMIS;

D O I：

10.1002/ccr3.5002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：5

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