21 research outputs found
Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing cholangitis syndrome without signs of liver disease
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Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1
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Mutations in the SOX18 transcription factor underlie recessive and dominant forms of lymphedema with hypotrichosis and telangiectasia.
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