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

Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.

American journal of medical genetics. Part A - 1 Jul 2018

Katwa Umakanth, D'Gama Alissa M, Qualls Anita E, Donovan Lucas M, Heffernan Jody, Shi Jiahai, Agrawal Pankaj B

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is a disorder of ventilatory control and autonomic dysregulation that can be caused by mutations in the paired-like homeobox 2B (PHOX2B) gene. The majority of CCHS cases are caused by polyalanine repeat mutations (PARMs) in PHOX2B; however, in rare cases, non-polyalanine repeat mutations (NPARMs) have been identified. Here, we report two patients with NPARMs in...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypoventilation

Share to Infant, Newborn

Share to Phenotype

Share to Prognosis

Share to Sleep Apnea, Central

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 29704303
DOI: 10.1002/ajmg.a.38720
PMCID: PMC6117218

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

Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.PMID 29704303Read ↗

Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).Semantic proximity Read ↗

A Case of "Abnormally Abnormal" Hypoxic Ventilatory Responses: A Novel NPARM PHOX 2B Gene Mutation.Semantic proximity Read ↗

Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.Semantic proximity Read ↗

Causative and common PHOX2B variants define a broad phenotypic spectrumSemantic proximity Read ↗

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.Semantic proximity Read ↗

Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations.Semantic proximity Read ↗

Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation.Semantic proximity Read ↗

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

PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?Semantic proximity Read ↗

A familial case of congenital central hypoventilation syndrome due to a combination of polyalanine repeat mutation and novel nonpolyalanine repeat mutation.Semantic proximity Read ↗

Recurrence of CCHS-associated PHOX2B Poly-Alanine expansion variant due to paternal mosaicism.Semantic proximity Read ↗

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.Semantic proximity Read ↗

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