Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies.

Unlocking the potential of multidisciplinary clinics to transform rare epilepsies care, insights, and research.

Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison.

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement.

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Occipital Extracranial Dermoid Cyst in a Neonate With Cardiofaciocutaneous Syndrome Type 4 (CFC4): A Case Report.

Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.

Generation of three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant.

Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome.

Current opinions on Noonan syndrome and RASopathies.

Langerhans Cell Histiocytosis in Cardiofaciocutaneous Syndrome.

Cardio-facial-cutaneous syndrome mitral valve prolapse: a rare association.

[Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review].

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.

RASopathies. Part II: Cutaneous and extracutaneous manifestations.

RASopathies. Part I: Genetics and therapeutic considerations.

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome.

Quantitative T1 Mapping Indicates Elevated White Matter Myelin in Children With RASopathies.

NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes.

A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.

RASopathies and Cardiac Complications: Insights into Mechanisms, Diagnosis, and Innovative Treatments.

Aberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models.

Granulomatous Variant of Giant Centrifugal Miliaria Profunda in an 8-Month-Old Boy: Expanding the Dermatologic Phenotype of Cardiofaciocutaneous Syndrome.

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Q241R mutation of Braf causes neurological abnormalities in a mouse model of cardio-facio-cutaneous syndrome, independent of developmental malformations.

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome.

Cardio-facio-cutaneous Syndrome with Severe Inflammatory Cutaneous Lesions: Dramatic Effect of Dupilumab.

Biomarker Landscape in RASopathies.

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.

A nationwide survey of Vici syndrome in Japan.

Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report.

Dermoscopic Features of Melanocytic Nevi in Cardiofaciocutaneous and Costello Syndromes.

Human Genetics of Atrial Septal Defect.

Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series.

Phenotypic Features in a New 12q21 Deletion and Its Association With Cardiofaciocutaneous Syndrome.

RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development.

RASopathies for Radiologists.

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

Autism spectrum disorder profiles in RASopathies: A systematic review.

MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept.

Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.

Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes.

Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.

A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant [Letter].

Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication.

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.

Treatment of Refractory Epilepsy With MEK Inhibitor in Patients With RASopathy.

A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant.

Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.

Evolutionary history of MEK1 illuminates the nature of deleterious mutations.

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome.

Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome.

An Unusual Presentation of Cardiofaciocutaneous Syndrome Diagnosed Through Whole Genome Sequencing: A Case Report.

Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia.

Spontaneous haemopericardium due to vitamin K deficiency in an adult patient with cardiofaciocutaneous syndrome.

Analysis of the Oral Microbiome in a Patient with Cardiofaciocutaneous Syndrome and Severe Periodontal Disease: Impact of Systemic Antibiotic Therapy.

Dermatological manifestations, management, and care in RASopathies.

New prospectives on treatment opportunities in RASopathies.

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.

Endocrine system involvement in patients with RASopathies: A case series.

Bone health in RASopathies.

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.

Clinical overview on RASopathies.

The heart in RASopathies.

Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental delay.

Novel Use of Intranasal Dexmedetomidine for Refractory Irritability in Pediatric Home Care.

Obstetrical and neonatal outcomes of cardio-facio-cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation.

[Clinical analysis of a child with cardio-facio-cutaneous syndrome due to a de novo variant of MAP2K1 gene].

Cancer-causing MAP2K1 mutation in a mosaic patient with cardio-facio-cutaneous syndrome and immunodeficiency.

Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio-facio-cutaneous syndrome.

Lymphangiography as a Treatment for Refractory Congenital Chylothorax Due to RASopathies: A Report of Two Cases.

Refining nosology by modelling variation among facial phenotypes: the RASopathies.

Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature.

Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene.

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

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.

Congenital extrahepatic portosystemic shunt: An unusual feature in cardio-facio-cutaneous syndrome.

Keratosis follicularis spinulosa decalvans-like cicatricial alopecia in a patient with cardiofaciocutaneous syndrome.

Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.

The RASopathies: from pathogenetics to therapeutics.

An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.

Eyelid nystagmus in a child with cardiofaciocutaneous syndrome associated with BRAF mutation.

RASopathies: Dermatologists' viewpoints.

The RASopathies: Biology, genetics and therapeutic options.

Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature.

Social behavior in RASopathies and idiopathic autism.

Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome.

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study.

Non-invasive Ventilation for Pediatric Hypoxic Acute Respiratory Failure Using a Simple Anesthetic Mask With 3D Printed Adaptor: A Case Report.

Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case-control study by quantitative magnetic resonance imaging.

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.

RASopathies: The musculoskeletal consequences and their etiology and pathogenesis.

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

Anesthesia management of pediatric dentistry patients with cardiofaciocutaneous syndrome: a case report.

Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.

Enlarged spinal nerve roots in RASopathies: Report of two cases.

Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating BrafL597V mouse model for cardio-facio-cutaneous syndrome.

Autism Spectrum Disorder Symptom Profile Across the RASopathies.

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

Mutation and Phenotypic Spectrum of Patients With RASopathies.

Senescence in RASopathies, a possible novel contributor to a complex pathophenoype.

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

RASopathies: A significant cause of polyhydramnios?

Clinical and molecular spectra of BRAF-associated RASopathy.

Immunoglobulin deficiency associated with a MAP2K1-related mutation causing cardio-facio-cutaneous syndrome.

Stress and Coping in Caregivers of Children with RASopathies: Assessment of the Impact of Caregiver Conferences.

A rare coincidence: the long QT syndrome and cardio-facio-cutaneous syndrome.

Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study.

[Noonan syndrome: genetic and clinical update and treatment options].

[Identification of a de novo MAP2K1 gene variant in an affected patient with Cardio-facio-cutaneous syndrome].

Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.

Anesthetic Management of a Pediatric Patient With Cardiofaciocutaneous Syndrome.

Cardiofaciocutaneous syndrome with rare structural variant in DOCK8 gene associated with neurodevelopmental disorders.

Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant.

Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy.

Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium.

Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.

Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.

The sixth international RASopathies symposium: Precision medicine-From promise to practice.

Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth.

Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?

NRAS associated RASopathy and embryonal rhabdomyosarcoma.

Arthritis associated to cardio-facio-cutaneous syndrome related to a MAP2K1 mutation.

Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.

Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.

Neurodevelopmental Aspects of RASopathies.

Endocrine abnormalities in cardiofaciocutaneous syndrome: a case of precocious puberty, hyperprolactinemia and diabetes insipidus.

Chondroblastoma-like mass of the temporal bone, secondary aneurysmal bone cyst, and intracerebral hemorrhage in a patient with cardiofaciocutaneous syndrome: case report.

Clinical Manifestations of Noonan Syndrome and Related Disorders.

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway.

The ERK MAPK Pathway Is Essential for Skeletal Development and Homeostasis.

Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.

Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients.

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.

Wooly hair nevus, Post's Type 2.

RASopathies and the skin.

Combined flecainide and sotalol therapy for multifocal atrial tachycardia in cardio-facio-cutaneous syndrome.

Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy.

Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant.

An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome.

Nevus cells of cardiofaciocutaneous syndrome bear BRAF germ-line and somatic double mutations.

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.

C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

Chondroblastoma-like tumor of the skull in a patient with cardio-facio-cutaneous syndrome.

Unusual hair findings in a child with cardiofaciocutaneous syndrome.

Deep Palmar and Plantar Creases in Costello Syndrome.

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.

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

RASopathies are associated with a distinct personality profile.

Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.

Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.

FOXI2: a possible gene contributing to ectodermal dysplasia.

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

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

Clinical factors in prosthodontic treatment of children with genetic defects.

Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice.

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

A review of craniofacial and dental findings of the RASopathies.

Genotype and phenotype spectrum of NRAS germline variants.

[Update on the treatment of RASopathies].

An adult case of cardiofaciocutaneous syndrome with BRAF mutation.

Cardiofaciocutaneous syndrome and the dermatologist's contribution to diagnosis.

Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway.

Cardiofaciocutaneous Syndrome: Case Report of a Rare Disorder.

RASopathies Are Associated With Delayed Puberty; Are They Associated With Precocious Puberty Too?

Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.

Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends.

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.

Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses.

Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment.

Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.

Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome.

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

Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience.

LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.

Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome.

Novel Carriers for Coenzyme Q10 Delivery.

New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations.

Prenatal findings in cardio-facio-cutaneous syndrome.

Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.

Cardiomyopathies in Noonan syndrome and the other RASopathies.

The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.

Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome.

Intralesional cryosurgery for the treatment of severe stoma hypergranulation following percutaneous endoscopic gastrostomy.

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.