2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.
7 citations
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January 2008 in “Indian Journal of Dermatology” This review discusses the clinical manifestations and genetic basis of pigmentary mosaicism, highlighting its varied phenotypic expressions, but reports no new clinical results.
May 2025 in “Clinical Medicine Insights Case Reports” This case study reported on a 6-year-old boy with Kindler Syndrome born to consanguineous parents, featuring atypical symptoms like hyperpigmented macules and glucose intolerance, contributing to expanding insights into the condition's phenotypic diversity.
January 2026 in “Animal Advances” In this study of four Chinese goat breeds, black goats exhibited significantly higher melanin content, while Inner Mongolian cashmere goats had longer fiber lengths. These findings highlight genetic variations in coat color and fiber length, informing future breeding programs.