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

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2022

Pierpont Elizabeth I, Kenney-Jung Daniel L, Shanley Ryan, Zatkalik Abigail L, Whitmarsh Ashley E, Kroening Samuel J, Roberts Amy E, Zenker Martin

Abstract excerpt

PURPOSE: Dysregulation of RAS or its major effector pathway is the molecular mechanism of RASopathies, a group of multisystemic congenital disorders. Neurologic complications are especially challenging in the management of the rare RASopathy cardiofaciocutaneous (CFC) syndrome. This study evaluated clinical neurologic and neurodevelopmental features and their associations with CFC syndrome gene variants. METHODS:...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Ectodermal Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Failure to Thrive

Share to Genotype

Share to Heart Defects, Congenital

Share to Proto-Oncogene Proteins B-raf

Share to Seizures

Source

Identifiers

PMID: 35524774
DOI: 10.1016/j.gim.2022.04.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study.PMID 35524774Read ↗

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.Semantic proximity Read ↗

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.Semantic proximity Read ↗

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic ImplicationsSemantic proximity Read ↗

A Literature Review and Pooled Case Analysis of Cardiofaciocutaneous Syndrome to Estimate Cancer RiskSemantic proximity Read ↗

A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.Semantic proximity Read ↗

Differential Diagnosis of RASopathies. Description of a Novel Variant Causing Cardiofaciocutaneous SyndromeSemantic proximity Read ↗

Clinical and molecular spectra of BRAF-associated RASopathy.Semantic proximity Read ↗

Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment.Semantic proximity Read ↗

CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variantsSemantic proximity Read ↗

Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.Semantic proximity Read ↗

Current opinions on Noonan syndrome and RASopathies.Semantic proximity Read ↗

RAS pathway: The new frontier of brain mosaicism in epilepsy.Semantic proximity Read ↗

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