• <em>STS</em> and <em>PUDP</em> Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review
• A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
• Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin
• Cardiac arrhythmia in individuals with steroid sulfatase deficiency (X-linked ichthyosis): candidate anatomical and biochemical pathways
• Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: a case report and review
• Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study
• Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis
• Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses
• Dermoscopy of genodermatoses
• Dual clinical features of fine and rough scales seen in a combined ichthyosis vulgaris and X-linked recessive ichthyosis patient with atopic dermatitis
• Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR)
• Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia-Alania, Case Series Report
• Genetics, X-Linked Inheritance
• Ichthyosis Follicularis with Alopecia and Photophobia Syndrome with Coexisting Palmoplantar Keratoderma Treated with Acitretin
• Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
• Identification of a novel partial deletion of <em>STS</em> associated with pre-Descemet corneal dystrophy and X-linked ichthyosis
• Identification of a novel partial deletion of STS associated with pre-Descemet corneal dystrophy and X-linked ichthyosis
• Identification of carrier status of Xp22.31 microdeletions associated with X-linked ichthyosis at the single-cell level using haplotype linkage analysis by karyomapping
• Memory, mood and associated neuroanatomy in individuals with steroid sulphatase deficiency (X-linked ichthyosis)
• Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel <em>MBTPS2</em> variant in Osteogenesis imperfecta
• Phase IIb randomized CONTROL study demonstrates a novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar congenital ichthyosis
• Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center
• Revisiting X-linked congenital ichthyosis
• RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis
• STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review
• The Rare Presence of Two Genetic Disorders (Neurofibromatosis 1 and X-Linked Recessive Ichthyosis) in a Single Patient
• Topical Isotretinoin (TMB-001) Treatment for 12 Weeks Did Not Result in Clinically Relevant Laboratory Abnormalities in Participants with Congenital Ichthyosis in the Phase 2b CONTROL Study
• Unraveling the molecular mechanisms of cell migration impairment and apoptosis associated with steroid sulfatase deficiency: Implications for X-linked ichthyosis
• X-linked genodermatoses from diagnosis to tailored therapy
• X-Linked Ichthyosis
• X-Linked Ichthyosis
• X-linked ichthyosis presenting with cryptorchidism for orchidopexy: A rare anesthetic encounter and case report
• Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up