Sirous Zeinali
Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran|Medical Genetics Laboratory, Kawsar Human Genetics Research Center, No. 41 Majlesi Street, Vali Asr Street, Tehran, Iran
[ 1 ] - Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome
Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...
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