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Mutation analysis of MVD gene in a family with linear porokeratosis
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- Author:
- No author available
- Journal Title:
- China journal of Leprosy and Skin Diseases
- Issue:
- 10
- DOI:
- 10.12144/zgmfskin202410721
- Key Word:
- 线状汗孔角化症;MVD基因;基因突变;二次打击;linear porokeratosis;MVD gene;mutation;second-hit
Abstract： We report a case of linear porokeratosis(LP).Genetic testing showed that the patient had a heterozygous mutation of c.683G>A(NM_002461)in the MVD gene,and his brother carried the same heter-ozygous mutation but did not have clinical phenotype.The phenomenon mainly arised from the fact that LP is a Mosaic disease which a postnatal somatic second-hit is a key factor in pathogenesis.
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