PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis [PDF]
Metabolites, 2022 The stratum corneum of the epidermis acts as a life-sustaining permeability barrier. Unique heterogeneous ceramides, especially ω-O-acylceramides, are key components for the formation of stable lamellar membrane structures in the stratum corneum and are ...
Fansi Zeng +3 more
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Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis [PDF]
Clinical Case Reports, 2021 Autosomal recessive congenital ichthyosis (ARCI) is a rare form of keratinization disorder of the skin, which can be caused by mutations in 14 ARCI genes.
Haiyan Tang, Xiaoliu Shi, Guiying Zhang
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A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. [PDF]
PLoS ONE, 2017 Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin.
Margret L Casal +4 more
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Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis [PDF]
Acta Dermato-Venereologica, 2020 is missing (Short communication)
Juliette Mazereeuw-Hautier +7 more
doaj +2 more sources
Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis [PDF]
International Journal of Molecular Sciences, 2022 Alisa Shaimardanova +2 more
exaly +2 more sources
Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever [PDF]
Veterinary Sciences, 2022 Ana Petak +2 more
exaly +2 more sources
Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis
罕见病研究, 2023 Autosomal recessive congenital ichthyosis caused by CERS3 mutations is extremely rare in clinical practice. We recently identified a family of autosomal recessive congenital ichthyosis and performed multigene exome sequencing for hereditary skin diseases
LIU Juan +6 more
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Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans [PDF]
American Journal of Human Genetics, 2017 Slaheddine Marrakchi +2 more
exaly +2 more sources
Congenital ichthyosis presentation and outcome - A case series
Journal of Family Medicine and Primary Care, 2023 The ichthyosis, also called disorders of keratinization or cornification, are heterogeneous group of disorders characterized by a generalized scaling of the skin of varying severity.
Qudsiya A. Ansari +3 more
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Harlequin ichthyosis: A case image from Syria
Clinical Case Reports, 2022 Harlequin ichthyosis is a rare autosomal recessive congenital ichthyosis with a distinct phenotypic appearance. It associated with a high mortality rate and affects both sexes equally.
Jacob Al‐Dabbagh +3 more
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