Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response
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DOI: 10.1177/10935266221079569
Abstract: Background: Myhre syndrome, caused by pathogenic variants in SMAD4, is characterized by compact body habitus with short stature, distinctive craniofacial appearance, stiff skin, cardiovascular abnormalities (valve stenosis, coarctation, hypoplasia, or stenosis of aorta), effusions of… read more here.
Keywords: myhre syndrome; pathogenic variants; review pathologic; pathologic characteristics ... See more keywords
Imaging Appearances and Pathologic Characteristics of Spinal Epidural Meningioma
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DOI: 10.3174/ajnr.a5414
Abstract: BACKGROUND AND PURPOSE: Spinal epidural meningioma is an uncommon tumor. This study aimed to analyze the imaging and pathologic characteristics of this rare tumor. MATERIALS AND METHODS: Fourteen confirmed cases of epidural meningioma were retrospectively… read more here.
Keywords: appearances pathologic; epidural meningioma; pathologic characteristics; imaging appearances ... See more keywords