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- Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
- Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
- Double mutation of <i>claudin‐1</i> and <i>claudin‐3</i> causes alopecia in infant mice
- Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
- The urine as a diagnostic key for a homozygous EGFR mutation
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update
- Delayed epidermal permeability barrier formation and hair follicle aberrations in Inv-Cldn6 mice
- Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
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