4 citations
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December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
5 citations
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September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
9 citations
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September 2013 in “Journal of Applied Animal Research” This study identified eight alleles of the caprine KAP13-3 gene in cashmere goats, which could influence gene expression and cashmere fiber characteristics.