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Genetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report.

Molecular biology reports - 1 Dec 2021

Khorasanian Reihaneh, Mojbafan Marzieh, Khosravi Nastaran

Abstract excerpt

BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is an extremely rare genetic disorder characterized by Autonomic nervous system dysregulation caused by mutations in the PHOX2B gene. Here we introduce the first genetic analysis of a one-month-old CCHS baby girl in Iran. METHODS AND RESULTS: Genetic analysis of the PHOX2B gene was performed by Sanger sequencing and interpreted using the American...

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Exons
Homeodomain Proteins
Hypoventilation
Infant, Newborn
Infant, Premature

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sleep Apnea, Central

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PMID: 34626313
DOI: 10.1007/s11033-021-06746-7

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