Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study.

Abstract excerpt

Peroxisomal disorders are a group of hereditary metabolic disorders that happen when peroxisomes are defective. Around 80% of individuals affected by peroxisomal disorders are classified within the spectrum of Zellweger syndromes with autosomal recessive inheritance pattern that results from mutations in one of the 13 PEX genes. Clinical exome sequencing plays a vital role in the diagnosis where the symptoms are...

Topics

• Humans
• Iran
• Male
• Female
• Peroxisomal Disorders
• Child
• Peroxisomes