Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response
LJ Starr, ME Lindsay, D Perry… - Pediatric and …, 2022 - journals.sagepub.com
… fibroproliferation and deposition of excessive extracellular matrix explaining some of the
observed clinical features of Myhre syndrome… gross and pathologic findings in Myhre syndrome. …
observed clinical features of Myhre syndrome… gross and pathologic findings in Myhre syndrome. …
Gain‐of‐function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome
… a striking fibroproliferative response in the ear canals, airways, and serosal cavities (peritoneum,
pleura, pericardium). Confirmation of the clinical diagnosis is usually prompted by the …
pleura, pericardium). Confirmation of the clinical diagnosis is usually prompted by the …
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
…, MGH Myhre Syndrome Study Group… - American Journal of …, 2024 - Wiley Online Library
… Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent
germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations …
germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations …
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
…, Myhre Syndrome Foundation Smith Justin 24 … - European Journal of …, 2024 - nature.com
… PubMed was queried with the search term ‘Myhre syndrome’. Articles published after
December, 2011 (when the molecular cause of MS was published) until June 16, 2023 were …
December, 2011 (when the molecular cause of MS was published) until June 16, 2023 were …
[HTML][HTML] Myhre syndrome: the first case in Korea
… Moreover, patients with MS can have a markedly abnormal fibroproliferative response to
surgical intervention. Therefore, surgical intervention should be approached with extreme …
surgical intervention. Therefore, surgical intervention should be approached with extreme …
[HTML][HTML] eP175: Recurrent SMAD4 gain-of-function pathogenic variants cause brain and spine abnormalities in 40 patients followed in the MGH Myhre Syndrome …
… Autism Spectrum Disorder), and a fibroproliferative response. … the central nervous system in
Myhre syndrome, a systematic … General Hospital (MGH) Myhre Syndrome Clinic. We wanted …
Myhre syndrome, a systematic … General Hospital (MGH) Myhre Syndrome Clinic. We wanted …
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
… markedly abnormal fibroproliferative response to surgical intervention, tissue damage, or
instrumentation has been reported as a complication in patients with Myhre syndrome. Mild …
instrumentation has been reported as a complication in patients with Myhre syndrome. Mild …
eP173: Re-examination of the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome in patients evaluated at the University of Miami
I Forghani, J Leuchter, G DiBartolomeo… - Genetics in …, 2022 - gimjournal.org
… Autism Spectrum Disorder), and a fibroproliferative response. … the central nervous system in
Myhre syndrome, a systematic … General Hospital (MGH) Myhre Syndrome Clinic. We wanted …
Myhre syndrome, a systematic … General Hospital (MGH) Myhre Syndrome Clinic. We wanted …
[HTML][HTML] Soluble ST2 in Heart failure: a clinical role beyond B-Type natriuretic peptide
… beneficial adaptive response in cardiac disease, which … response, such as asthma, pulmonary
fibrosis, rheumatoid arthritis, collagen vascular diseases, sepsis, trauma, fibroproliferative …
fibrosis, rheumatoid arthritis, collagen vascular diseases, sepsis, trauma, fibroproliferative …
Novel progressive acrodysostosis‐like skeletal dysplasia, cerebellar atrophy, and ichthyosis
HM Velasco, E Ullah, AM Martin… - American Journal of …, 2020 - Wiley Online Library
… Myhre syndrome (OMIM #139210) is characterized by muscle hypertrophy, midface hypoplasia,
blepharophimosis, prognathism, intellectual disability, short stature, brachydactyly, and …
blepharophimosis, prognathism, intellectual disability, short stature, brachydactyly, and …
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