Marziyeh Hoseinzadeh
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View article: A novel missense pathogenic variant c.9455T > G (p.L3152R) in CDH23 underlies autosomal recessive non-syndromic hearing loss
A novel missense pathogenic variant c.9455T > G (p.L3152R) in CDH23 underlies autosomal recessive non-syndromic hearing loss Open
Background Hearing loss (HL) is the most common sensory-neural defect worldwide and the second most common disability in Iran. This study aimed to identify the genetic cause of autosomal recessive non-syndromic hearing loss (ARNSHL) in a l…
View article: Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome
Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome Open
Objective Wolfram syndrome (WS) is a genetically disorder that affect on many organs, and neurodegenerative disorder. Although various clinical dysfunctions may have different onset times, they can collectively contribute to delays in the …
View article: Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family
Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family Open
Background Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous group of disorders of the auditory system. SNHL can occur as a symptom in more than 400 syndromes, and mutations in more than 150 genes can lead to …