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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Oct 5, 2024. (Total: 232220Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Multiple Self Healing Squamous Epithelioma[original query]
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.
American journal of medical genetics. Part A 2018 12 176 (12): 2892-2895.
Sirisomboonwong Korawan E, Martindale Joanne, Keefe Martin, Goudie David, Poke Gem
Coexistence of Multiple self-healing squamous epithelioma and features of Loeys-Dietz syndrome caused by a pathogenic missense variant in the kinase domain of TGFBR1 gene.
Clinical and experimental dermatology 2023 12 .
Schaida Schirwani, Bea Suarez, Matthew Sommerlad, Emma Corden, Geeta Belgi, Diana Eccles, Adam Fity
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