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Genetic study of apatient with congenital central hypoventilation syndrome in Iran: a case report
I. Background: Congenital central hypoventilation syndrome (CCHS) is an extremely rare genetic disorder characterized by autonomic nervous system (ANS) dysregulation caused by mutations in the PHOX2B gene. Here we introduce the first genetic analysis of a CCHS patient in Iran.II. Methods and Results: Genetic analysis of the PHOX2B gene was performed by Sanger sequencing and interpreted using the American College of Medical Genetics and Genomics (ACMG) guideline. The results showed adoi:10.21203/rs.3.rs-305918/v1 fatcat:dxigatoo5bgxpozsyyewxji5pa