• A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome
• A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report
• A common deletion mutation in European patients with Sjögren-Larsson syndrome
• A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome
• A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association
• A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene
• A new SLC27A4 mutation associated with ichthyosis prematurity syndrome and compartment syndrome
• A Nonsense Variant in the <em>ST14</em> Gene in Akhal-Teke Horses with Naked Foal Syndrome
• A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome
• A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis
• Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: differentiation from other infantile erythrodermas and pathogenic implications
• An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation
• Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work
• Antenatal Findings of Keratitis-Ichthyosis-Deafness Syndrome
• Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13
• Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1
• Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype
• Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome
• Ciliopathy: Sjögren-Larsson Syndrome
• Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease
• Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene
• Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand
• Clinical and molecular implications of structural changes to desmosomes and corneodesmosomes
• Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations
• Collodion baby and respiratory distress syndrome
• Comparative functional characterization of novel non-syndromic <em>GJB2</em> gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu
• Complex case study: nursing care of an infant with restrictive dermopathy
• Congenital diaphragmatic hernia and early lethality in PIGL-related disorder
• Congenital erythroderma
• Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome
• Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord
• EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features
• Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA
• Epidermal hyperproliferation in mice lacking fatty acid transport protein 4 (FATP4) involves ectopic EGF receptor and STAT3 signaling
• Experience of low-dose dexamethasone use in the respiratory management of ichthyosis prematurity syndrome
• Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency
• FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome
• Fatty acid transport protein 1 can compensate for fatty acid transport protein 4 in the developing mouse epidermis
• Fatty acid transport protein 4 is required for incorporation of saturated ultralong-chain fatty acids into epidermal ceramides and monoacylglycerols
• Fatty acid transporters in skin development, function and disease
• Genetic activation of Nrf2 reduces cutaneous symptoms in a murine model of Netherton syndrome
• Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C
• Ichthyosis prematurity syndrome caused by a novel fatty acid transport protein 4 gene mutation in a German infant
• Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India
• Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient
• Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A &gt; G mutation in the FATP4 gene
• Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene
• Ichthyosis prematurity syndrome mimics keratitis-ichthyosis-deafness syndrome at birth: Use of electron microscopy and genetic testing
• Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia
• Ichthyosis prematurity syndrome: a case report and review of known mutations
• Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis
• Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype
• Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism
• Ichthyosis Prematurity Syndrome: From Fetus to Adulthood
• Ichthyosis prematurity syndrome: Two new cases
• Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability
• Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome
• Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65
• Inherited ichthyoses: molecular causes of the disease in Czech patients
• Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis
• Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome
• Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia
• LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome
• LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum
• Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome
• Management of congenital ichthyoses: European guidelines of care, part two
• Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome
• Mixed sclerosing dysplasia of the bone associated with ovarian and skin problems
• Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome
• Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome
• Myeloid-specific fatty acid transport protein 4 deficiency induces a sex-dimorphic susceptibility for nonalcoholic steatohepatitis in mice fed a high-fat, high-cholesterol diet
• Neonatal skin barrier: structure, function, and disorders
• Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5
• Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
• Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5
• Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters
• Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy
• Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome
• Ocular manifestations in the inherited DNA repair disorders
• Permanent neonatal diabetes with arthrogryposis multiplex congenita and neurogenic bladder - a new syndrome?
• Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling
• Prenatal sonographic assessment and perinatal course of ichthyosis prematurity syndrome
• Preterm birth in Sjögren-Larsson syndrome
• Requirement of fatty acid transport protein 4 for development, maturation, and function of sebaceous glands in a mouse model of ichthyosis prematurity syndrome
• Role of fatty acid transport protein 4 in metabolic tissues: insights into obesity and fatty liver disease
• Role of fatty acid transporters in epidermis: Implications for health and disease
• Severe hypernatremic dehydration in an infant with Netherton syndrome
• Sjögren-Larsson syndrome in clinical practice
• Skin permeability barrier formation by the ichthyosis-causative gene <em>FATP4</em> through formation of the barrier lipid ω-<em>O</em>-acylceramide
• SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases
• The Causative Gene in Chanarian Dorfman Syndrome Regulates Lipid Droplet Homeostasis in C. elegans
• The prevalence, risk of premature births, mortality and causes of death of cleft lip with or without palate in South Korea: a nationwide population-based cohort study
• The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis
• Trichothiodystrophy: from basic mechanisms to clinical implications
• Trichothiodystrophy: PIBIDS syndrome
• Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)
• Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model
• Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome
• Vitamin D deficiency rickets complicating Dorfman-Chanarin syndrome
• Vulnerable child syndrome in the neonatal intensive care unit: A review and a new preventative intervention with feasibility and parental satisfaction data