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- Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- Congenital and Hereditary Skin Diseases
- Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Clinical report of a Holstein's calf with ichthyosis.
- Current Genetics in Hair Diseases
- A review of genotrichoses and hair pathology associated with inherited skin diseases
- Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- Tricotiodistrofia. Reporte de un caso
- An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
- Inherited Disorders of the Hair
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
- Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
- Corneodesmosin: Structure, Function and Involvement in Pathophysiology
- Ectodermal Dysplasia: Variable Expressions
- Successful induction of oral tolerance in Netherton syndrome
- Congenital atrichia and hypotrichosis
- Management of congenital ichthyoses: European guidelines of care, part two
- Common genetic hair shaft abnormalities may be visualized by light and electron microscope
- Genetics of Structural Hair Disorders
- To grow or not to grow: Hair morphogenesis and human genetic hair disorders
- HAIR AND SYSTEMATIC DISEASE
- Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern
- Dermatopathology and molecular genetics
- Diseases of Periocular Hair