Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Seminars in respiratory and critical care medicine - 1 Jun 2009

Grigg-Damberger Madeleine, Wells Audrey

Abstract excerpt

Central congenital hypoventilation syndrome (CCHS) is a disorder in which affected individuals fail to breathe during sleep despite progressive hypercapnia and hypoxia. Discovery of the genetic link between PHOX2B gene mutations and CCHS represents a breakthrough in the diagnosis of CCHS, identification of patients with late-onset central hyperventilation syndrome (LO-CHS), association of mutated alleles with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Hypoventilation

Share to Polysomnography

Share to Respiration, Artificial

Share to Severity of Illness Index

Share to Syndrome

Source

Identifiers

PMID: 19452387
DOI: 10.1055/s-0029-1222440

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder.PMID 19452387Read ↗

Congenital central hypoventilation syndrome: diagnosis and management.Semantic proximity Read ↗

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

Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.Semantic proximity Read ↗

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

Later Onset Congenital Central Hypoventilation Syndrome.Semantic proximity Read ↗

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.Semantic proximity Read ↗

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

Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?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 and the PHOX2B gene mutation.Semantic proximity Read ↗

Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.