Disease: Growth mental deficiency syndrome of Myhre
- A case of Myhre syndrome mimicking juvenile scleroderma
- A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot
- A new growth deficiency syndrome
- A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4
- A pilot clinical trial with losartan in Myhre syndrome
- A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
- Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins
- 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
- Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres
- Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome
- Benefit of cochlear implantation in a patient with Myhre syndrome
- Benefits of Early Referral to Pediatric Palliative Care for a Child With a Rare Disease
- Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre syndrome
- Case of Myhre syndrome with autism and peculiar skin histological findings
- Children who age rapidly--progeroid syndromes: case report of a new variant
- Clinical features and respiratory complications in Myhre syndrome
- Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
- First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation
- First case of Myhre syndrome with schizophrenia
- Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome
- Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome
- Geleophysic dysplasia vs. Myhre syndrome
- Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification
- Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome
- Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
- Mutations of SMAD4 account for both LAPS and Myhre syndromes
- Myhre and LAPS syndromes: clinical and molecular review of 32 patients
- Myhre Syndrome
- Myhre syndrome
- Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding
- Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors
- Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation
- Myhre syndrome with ataxia and cerebellar atrophy
- Myhre syndrome with facial paralysis and branch pulmonary stenosis
- Myhre syndrome with novel findings: bilateral congenital cortical cataract, bilateral papilledema, accessory nipple, and adenoid hypertrophy
- Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum
- Myhre syndrome: a rare craniofacial disorder
- Myhre syndrome: a report of six Chinese patients and literature review
- Myhre syndrome: Age-dependent progressive phenotype
- Myhre syndrome: Clinical features and restrictive cardiopulmonary complications
- Myhre syndrome: expanding its paediatric phenotypic spectrum
- Myhre syndrome: first female case
- Myhre syndrome: new reports, review, and differential diagnosis
- Myhre syndrome: the first case in Korea
- Myhre-GOMBO syndrome: possible lumping of two "old" new syndromes
- Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions
- Natural history and life-threatening complications in Myhre syndrome and review of the literature
- Natural history of Myhre syndrome
- Novel SMAD4 mutation causing Myhre syndrome
- Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities
- Recurrent pericarditis in Myhre syndrome
- Retinal involvement in two unrelated patients with Myhre syndrome
- Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in <em>SMAD4</em> cause a Multisystem Fibroproliferative Response
- Severe constipation in a patient with Myhre syndrome: a case report
- 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
- SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan
- The fifth female patient with Myhre syndrome: further delineation
- The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity
- The Myhre syndrome: report of two cases
- Unusual cause of hoarse voice: Laryngotracheal histoplasmosis in renal transplant patient