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Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin FragilityExpanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.Betulin-Based Oleogel to Improve Wound Healing in Dystrophic Epidermolysis Bullosa: A Prospective Controlled Proof-of-Concept StudyNovel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.Oxidative stress and mitochondrial dysfunction in Kindler syndrome.Research Techniques Made Simple: Immunofluorescence Antigen Mapping in Epidermolysis Bullosa.Molecular and diagnostic aspects of genetic skin fragility.Consistency of the proteome in primary human keratinocytes with respect to gender, age, and skin localizationTargeting epidermal lipids for treatment of Mendelian disorders of cornification.Acromelanosis albo-punctata: a distinct inherited dermatosis with acral spotty dyspigmentation without systemic involvement.Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.Therapies for inherited skin fragility disorders.Epidermal Basement Membrane in Health and Disease.Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa.RhoA activation by CNFy restores cell-cell adhesion in kindlin-2-deficient keratinocytes.Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.Recurring staphylococcal scalded skin syndrome-like bullous mastocytosis: the utility of cytodiagnosis and the rapid regression with steroids.A unique LAMB3 splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries.Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.Junctional epidermolysis bullosa with LAMB3 splice-site mutations.Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome.Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.PORCN mutations in focal dermal hypoplasia: coping with lethality.Epidermolysis bullosa simplex: greater penetrance due to a keratin 5 gene variant.Novel and recurrent AAGAB mutations: clinical variability and molecular consequences.Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms.The Position of Targeted Next-generation Sequencing in Epidermo-lysis Bullosa Diagnosis.Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation.The mysteries of mosaicism: phenotypic variability in a family with incontinentia pigmenti.A multistep approach to the diagnosis of rare genodermatoses.Large deletions targeting the triple-helical domain of collagen VII lead to mild acral dominant dystrophic epidermolysis bullosa.UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome.Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies.The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility.Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa.Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation.Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa.
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