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- Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
- Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report
- Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
- Development of squamous cell carcinoma from erythroplasia of Queyrat following photodynamic therapy
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
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