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

Craniofacial and dental development in Costello syndrome.

American journal of medical genetics. Part A - 1 Jun 2014

Goodwin Alice F, Oberoi Snehlata, Landan Maya, Charles Cyril, Massie Jessica C, Fairley Cecilia, Rauen Katherine A, Klein Ophir D

Abstract excerpt

Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, dermatological, and developmental abnormalities. The RASopathies are defined as a group of syndromes caused by activated Ras/mitogen-activated protein kinase (MAPK) signaling. Specifically, CS is caused by activating mutations in HRAS. Although receptor tyrosine kinase (RTK) signaling, which is upstream of Ras/MAPK,...

Read the complete abstract on PubMed

Topics

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

Share to Costello Syndrome
Share to Craniofacial Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dental Enamel Hypoplasia

Share to Ectodermal Dysplasia

Share to Failure to Thrive

Share to Malocclusion

Share to Tooth Abnormalities

Source

Open in PubMed Open full text

Identifiers

PMID: 24668879
DOI: 10.1002/ajmg.a.36475
PMCID: PMC4115793

Genes

HRAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Craniofacial and dental development in Costello syndrome.PMID 24668879Read ↗

Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.Semantic proximity Read ↗

A review of craniofacial and dental findings of the RASopathiesSemantic proximity Read ↗

HRAS and the Costello syndrome.Semantic proximity Read ↗

Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.Semantic proximity Read ↗

Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formationSemantic proximity Read ↗

A possible cranio-oro-facial phenotype in Cockayne syndrome.Semantic proximity Read ↗

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.Semantic proximity Read ↗

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.Semantic proximity Read ↗

Craniofacial phenotypes associated with Robinow syndrome.Semantic proximity Read ↗

Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development.Semantic proximity Read ↗

The facial phenotype of the velo-cardio-facial syndrome.Semantic proximity Read ↗

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.Semantic proximity Read ↗

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