Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.

Myhre Syndrome Presenting With Congenital Proximal Radioulnar Synostosis: A Case Report.

Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation.

Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.

A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.

Anesthetic Management of a Patient With Myhre Syndrome.

Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review.

A proposed nosology of inherited disorders of the extracellular matrix (ECM): Insights from the IEMbase and dyadic classification.

Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology.

Evaluation of the Mid and Lower Face in Three Females With Myhre Syndrome: Objective Methods to Supplement Subjective Assessment.

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self-Reported Data.

Navigating Drug Discovery for Myhre Syndrome: The Complexity of a Multisystemic Rare Disease.

Identification and characterization of a TGF-β-independent SMAD4-NFATc1-STAT3 regulatory axis.

Cardio-Respiratory Complications in Adult Monozygotic Twins With Myhre Syndrome.

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome.

Journaling for Parents and Adults With Myhre Syndrome: Using Reflective Writing to Help Cope.

Foveal hypoplasia in Myhre syndrome: a novel association.

Research Review of Myhre Syndrome.

Myhre syndrome: Endoscopic airway presentation.

2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.

Thick skin and thicker arteries: case report on a rare cause of hypertension.

SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.

Spontaneous Coronary Artery Dissection: Current Knowledge, Research Gaps, and Innovative Research Initiatives: JACC Advances Expert Panel.

Myhre syndrome: case report.

The Myhre Syndrome Foundation as a global modern support group: The business of rare.

Gain-of-function variants in SMAD4 compromise respiratory epithelial function.

Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

Middle Ear Fibrosis Contributes to Hearing Loss in Patients With Myhre Syndrome.

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).

Corrigendum to "Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome".

Psychiatric manifestations of Myhre syndrome: A case report.

SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.

The Multifaceted Syndromic Primary Immunodeficiencies in Children.

Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities.

Myhre syndrome: expanding its paediatric phenotypic spectrum.

A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys).

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.

Natural history of Myhre syndrome.

An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.

First documented case of Myhre syndrome in Romania: A case report.

Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.

Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding.

First case of Myhre syndrome with schizophrenia.

Benefit of cochlear implantation in a patient with Myhre syndrome.

Case Report: Improved Height in a Patient With Myhre Syndrome Using a Combination of Growth Hormone and Letrozole.

Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation.

Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome.

Myhre syndrome: the first case in Korea.

Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification.

SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome.

A pilot clinical trial with losartan in Myhre syndrome.

A case of Myhre syndrome mimicking juvenile scleroderma.

Myhre Syndrome Associated With Dunbar Syndrome and Urinary Tract Abnormalities: A Case Report.

Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.

Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.

The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.

Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.

Life-Threatening Multilevel Airway Stenosis Due to Myhre Syndrome.

Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome.

Myhre syndrome: a report of six Chinese patients and literature review.

Myhre syndrome: Age-dependent progressive phenotype.

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.

Myhre syndrome with novel findings: bilateral congenital cortical cataract, bilateral papilledema, accessory nipple, and adenoid hypertrophy.

Smad4 regulates growth plate matrix production and chondrocyte polarity.

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

Severe constipation in a patient with Myhre syndrome: a case report.

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

Tumor-suppressor Genes, Cell Cycle Regulatory Checkpoints, and the Skin.