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Non‐syndromic congenital ichthyosis describes a heterogeneous group of hereditary skin disorders associated with erythroderma and scaling at birth.
L. Frommherz+9 more
semanticscholar +1 more source
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis [PDF]
Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied.
Betz, Regina C.+12 more
core +2 more sources
Hypernatremia in congenital lamellar ichthyosis
Ben Zion Garty, Aryeh Metzker, M Nitzan
openalex +4 more sources
Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review [PDF]
Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article,
Cepeda-Valdés, Rodrigo+7 more
core +2 more sources
The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome [PDF]
Ichthyosis with confetti (IWC) is a genodermatosis caused by dominant negative mutations in the gene encoding keratin 10 (KRT10). We investigated clinical and genetic details of a substantial number of patients with IWC in order to define major and minor
Brena, Michela+7 more
core +1 more source
A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function [PDF]
Connexin hemichannels, which are plasma membrane hexameric channels (connexons) composed of connexin protein protomers, have been implicated in a host of physiological processes and pathological conditions. A number of single point pathological mutations
Buratto, Damiano+12 more
core +1 more source
Ichthyosis is a heterogeneous group of rare genetic skin disorders characterized by furfuraceous and dry skin. The classification of ichthyosis has always been a challenging process as genodermatoses.
Evren Gumus
doaj +1 more source
Ichthyosis as one of the forms of hereditary pathology of fetus and newborn
A retrospective analysis of the course of pregnancy and childbirth during the birth of a child with a congenital pathology «ichthyosis» was carried out.
A. A. Borscheva+2 more
doaj +1 more source
Introduction: Autosomal recessive congenital ichthyosis is a non-syndromic ichthyosis, with a genetic background of mutations in 9 genes. This case series presents clinical and paraclinical particularities of 3 Romanian ARCI patients with NIPAL4 mutation
Maier Dalila+4 more
doaj +1 more source
Harlequin ichthyosis newborn: A case report
Harlequin ichthyosis is a rare and severe genetic skin disorder that occurs within the developing foetus. Harlequin ichthyosis is the most severe and devastating form of autosomal recessive congenital ichthyoses.
Maryam Nikbina, Masoumeh Sayahi
doaj +1 more source