Disease: Lamellar ichthyosis- type 3
- 3D model of harlequin ichthyosis reveals inflammatory therapeutic targets
- A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type
- ABHD5 frameshift deletion in Golden Retrievers with ichthyosis
- Autosomal recessive <em>ALOX12B</em> gene and consecutive collodion baby
- Comprehensive stratum corneum ceramide profiling reveals reduced acylceramides in ichthyosis patient with CERS3 mutations
- Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis
- Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis
- Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1
- Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis
- Meta-Analysis of Mutations in <em>ALOX12B</em> or <em>ALOXE3</em> Identified in a Large Cohort of 224 Patients
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- Pott Disease in a 14-year-old Girl Affected by Congenital Lamellar Ichthyosis Type 3 and Diabetes Mellitus
- Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis
- Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families
- Transglutaminase diseases: from biochemistry to the bedside
- Two Italian Patients with <em>ELOVL4</em>-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization
- Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization
- Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling