Search Results - "Hodges, Mia B"
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Quantification of Proteus syndrome-associated lung disease
Published in Orphanet journal of rare diseases (06-02-2024)“…Proteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can develop emphysematous and cystic changes of the lung that…”
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Journal Article -
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Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome
Published in Orphanet journal of rare diseases (23-04-2022)“…Clinical outcome assessments are important tools for measuring the natural history of disease and efficacy of an intervention. The heterogenous phenotype and…”
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Journal Article -
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Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndrome
Published in Cold Spring Harbor molecular case studies (01-12-2021)“…Proteus syndrome is a rare overgrowth disorder caused by postzygotic activating variants in Individuals may develop a range of skin, bone, and soft tissue…”
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Journal Article