Article

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

2021-03-16

Abstract excerpt

I. <h4>Background:</h4> 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. <h4>Methods and Results:</h4> Genetic analysis of the PHOX2B gene was performed by Sanger sequencing and interpreted using the...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f96dd4a4-d07b-55d4-984c-3d1e4905c65d
DOI: 10.21203/rs.3.rs-305918/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic study of apatient with congenital central hypoventilation syndrome in Iran: a case reportDOI 10.21203/rs.3.rs-305918/v1Read

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

The genetics of congenital central hypoventilation syndrome: clinical implicationsSemantic proximity Read

PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome.Semantic proximity Read

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Semantic proximity Read

Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.Semantic proximity Read

[Congenital central hypoventilation syndrome: analysis of PHOX2B gene mutation in a case].Semantic proximity Read

Congenital central hypoventilation syndrome due to PHOX2B mutation in a Saudi child: a case report.Semantic proximity Read

Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.Semantic proximity Read

International Congenital Central Hypoventilation Syndrome (CCHS) Registry: Analysis of Patient-Reported Symptoms by PHOX2B VariantSemantic proximity Read

Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation SyndromeSemantic proximity Read

Guidelines for diagnosis and management of congenital central hypoventilation syndrome.Semantic proximity Read

Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder.Semantic proximity Read