Open AccessHomozygous AHI1 gene mutation (c.1213A>C; Thr405Pro) leads to Joubert syndrome in a consanguineous Iranian family: A case report
Author(s) -
Mostafa Neissi,
Adnan Issa Al-Badran,
Javad Mohammadi-Asl
Publication year - 2022
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.138
H-Index - 16
ISSN - 1823-6138
DOI - 10.54029/2022anp
Subject(s) - joubert syndrome , missense mutation , genetics , sanger sequencing , exome sequencing , exon , mutation , biology , compound heterozygosity , microcephaly , global developmental delay , phenotype , gene