Total: 2 |
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PMID (PMCID) | ||
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29321362 |
MIXED_SAMPLE | Adult |
A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review. | ||
Liu SM, Ni MX, Zhang MC, Zhu PR, Wu QY, Jiang WJ, Zhang J, Li WW, Xia XY. J Genet. 2017;96(6):1021-1026. |
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Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant pigmentary genodermatosis, which is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal of the hands and feet, and on the face presented like freckle. | ||
11167700 |
MALE | |
Useful applications of DNA repair tests for differential diagnosis of atypical dyschromatosis symmetrica hereditaria from xeroderma pigmentosum. | ||
Ohtoshi E, Matsumura Y, Nishigori C, Toda KI, Horiguchi Y, Ikenaga M, Miyachi Y. Br J Dermatol. 2001;144(1):162-8. |
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Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of pigmented and hypopigmented macules on the extremities and freckles on the face. |