Disease: Cataract and congenital ichthyosis
- Adult presentation of X-linked Conradi-Hünermann-Happle syndrome
- Chanarin-Dorfman syndrome
- Chanarin-dorfman syndrome with multi-system involvement in two siblings
- Complex neuro-ectodermic dysplasia associated with oligophrenia, spastic paraplegia, epilepsy, cataract and congenital ichthyosis. Nosological discussion
- Conradi-Hünermann-Happle syndrome
- Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis
- Developmental cataract in congenital ichthyosis
- Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis
- Lamellar ichthyosis presenting as bilateral spontaneous corneal perforation
- Non-surgical management of congenital ichthyosis using hyaluronic acid gel injection
- Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome
- Serine Deficiency Disorders
- Short communication: Prevalence of deleterious variants causing recessive disorders in Italian Chianina, Marchigiana and Romagnola cattle
- Sight-threatening Complication of Cicatricial Ectropion in a Patient with Lamellar Ichthyosis - Case Report
- Syndermotic cataract and congenital ichthyosis
- Unequivocal Mapping of Molecular Ether Lipid Species by LC-MS/MS in Plasmalogen-Deficient Mice
- X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis