Article

Congenital Central Hypoventilation Syndrome in Neonates: Report of Fourteen New Cases and A Review of the Literature

2020-03-25

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disorder caused by pathogenic variants in <italic>PHOX2B</italic> gene. Characteristics of neonatal-onset CCHS cases have not been well assessed. Our study aimed to expand current knowledge of clinical and genetic features of neonates with CCHS and provide data on the genotype-phenot...

Topics

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

Identifiers and source

Literature Corpus work: 769fd596-75ec-5143-974e-7b3ba086642b
DOI: 10.21203/rs.3.rs-18814/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Congenital Central Hypoventilation Syndrome in Neonates: Report of Fourteen New Cases and A Review of the LiteratureDOI 10.21203/rs.3.rs-18814/v1Read

The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype.Semantic proximity Read

Clinical practices and prognosis of Congenital Central Hypoventilation Syndrome : based on 20-year-records in KoreaSemantic proximity Read

Extended clinical phenotype of late-onset congenital central hypoventilation syndrome in children with PHOX2B mutationsSemantic proximity Read

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

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

[Congenital Central Hypoventilation Syndrome: neonatal diagnosis and management].Semantic 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

PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood.Semantic proximity Read

Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.Semantic proximity Read

Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center.Semantic proximity Read

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.Semantic proximity Read