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

RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations.

Clinical dysmorphology - 1 Apr 2017

Hartill Verity L, Dillon Mitchell W, Warren Daniel J, Blyth Moira

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Cerebral Cortex
Share to Comparative Genomic Hybridization
Share to Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Noonan Syndrome

Share to Proto-Oncogene Proteins c-raf

Share to Radiography

Share to Tomography, X-Ray Computed

Source

Identifiers

PMID: 27753652
DOI: 10.1097/MCD.0000000000000153

Genes

RAF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations.PMID 27753652Read ↗

Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage.Semantic proximity Read ↗

Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.Semantic proximity Read ↗

A severe clinicopathologic phenotype of RAF1 Ser257Leu neomutation in a preterm infant without cardiac anomaly.Semantic proximity Read ↗

Obstetrics and neonatal outcomes of binder phenotype with antenatal diagnosis: A case report and literature review.Semantic proximity Read ↗

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.Semantic proximity Read ↗

MN1 Linked to Syndrome Characterized by Craniofacial Abnormalities and Severe Developmental Delay.Semantic proximity Read ↗

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.Semantic proximity Read ↗

The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review.Semantic proximity Read ↗

Prenatal diagnosis of non-typical Chiari malformation type I associated with de novo Nuclear Factor I A gene mutation: a case report.Semantic proximity Read ↗

Kindler syndrome with a novel mutation and gynaecological complication.Semantic proximity Read ↗

PHACE syndrome – clinical features, aetiology and managementSemantic proximity Read ↗

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.Semantic proximity Read ↗

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