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

Familial cardio-facio-cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature.

American journal of medical genetics. Part A - 1 Feb 2021

Rauen Katherine A, Maeda Yoshiko, Egense Alena, Tidyman William E

Abstract excerpt

Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies and is caused by germline mutations that activate the Ras/mitogen-activated protein kinase (MAPK) pathway. CFC is due to heterozygous germline mutations in protein kinases BRAF, MEK1, or MEK2 and rarely in KRAS, a small GTPase. CFC is a multiple congenital anomaly disorder in which individuals may have craniofacial dysmorphia, heart issues, skin and...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Ectodermal Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Failure to Thrive

Share to Germ-Line Mutation

Share to Heart Defects, Congenital

Share to MAP Kinase Kinase 1

Share to MAP Kinase Kinase 2

Source

Identifiers

PMID: 33274568
DOI: 10.1002/ajmg.a.61995

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

Familial cardio-facio-cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature.PMID 33274568Read ↗

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.Semantic proximity Read ↗

Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation.Semantic proximity Read ↗

A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?Semantic proximity Read ↗

Cardio-facio-cutaneous syndrome with BRAF gene mutation: A case report and literature review.Semantic proximity Read ↗

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.Semantic proximity Read ↗

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

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.Semantic proximity Read ↗

Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.Semantic proximity Read ↗

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.Semantic proximity Read ↗

Langerhans Cell Histiocytosis in Cardiofaciocutaneous Syndrome.Semantic proximity Read ↗

LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.Semantic proximity Read ↗

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

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