Search Results - "Ellis, Katharine T."
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Association of Somatic ATP2A2 Damaging Variants With Grover Disease
Published in JAMA dermatology (Chicago, Ill.) (01-07-2023)“…Grover disease (GD), a truncal eruption that typically occurs in older individuals, is exacerbated by sweating, irradiation, cancers, medications, kidney…”
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speck , First Identified in Drosophila melanogaster in 1910, Is Encoded by the Arylalkalamine N-Acetyltransferase (AANAT1) Gene
Published in G3 : genes - genomes - genetics (01-09-2020)“…The pigmentation mutation is a commonly used recombination marker characterized by a darkly pigmented region at the wing hinge. Identified in 1910 by Thomas…”
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Cutaneous mosaicism: Special considerations for women
Published in International journal of women's dermatology (01-12-2021)“…Genetic mosaicism results from postzygotic mutations during embryogenesis. Cells harboring pathogenic mutations distribute throughout the developing embryo and…”
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Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation
Published in HGG advances (08-04-2021)“…The term “cavernous hemangioma” has been used to describe vascular anomalies with histology featuring dilated vascular spaces, vessel walls consisting mainly…”
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Extensive blaschkoid macules and patches since birth
Published in JAAD Case Reports (01-01-2023)Get full text
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Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation
Published in HGG advances (13-01-2022)Get full text
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Erratum: Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation
Published in HGG advances (13-01-2022)“…[This corrects the article DOI: 10.1016/j.xhgg.2021.100028.]…”
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