Case Report: Recessive Dystrophic Epidermolysis Bullosa With Severe Esophageal Stenosis: A Case Report and Literature Review. [PDF]
Br J Biomed Sci, 2022 Xu Z, Huang T, Pan M, Huang Y, Jiang Y.
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Clinical Study on Palmoplantar Keratoderma [PDF]
, 2012 INTRODUCTION : Palmoplantar keratodermas are a heterogenous group of disorders characterized by hyperkeratosis of palms and soles. They may be inherited or acquired disorders.
Mohanasundari, P S
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Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review. [PDF]
Orphanet J Rare Dis, 2023 Fournier H +3 more
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Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform. [PDF]
Hum Genome Var, 2023 Liu Y +15 more
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Forward vs. reverse genetics: a bovine perspective based on visible and hidden phenotypes of inherited disorders [PDF]
In modern cattle production, we have seen a negative trend for decades in reproduction while productivity and performance have improved. Although considered genetically complex, part of these fecundity, fertility, and rearing success issues are caused by
Häfliger, Irene Monika
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Ichthyoses-A Clinical and Pathological Spectrum from Heterogeneous Cornification Disorders to Inflammation. [PDF]
Dermatopathology (Basel), 2021 Metze D, Traupe H, Süßmuth K.
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Congenital Ichthyosis in Pediatric Age Group: A Clinical study [PDF]
, 2008 INTRODUCTION : Ichthyoses comprise of a heterogeneous group of disorders, due to defect in keratinization or cornification with abnormal differentiation and desquamation of epidermis. It is clinically characterized by dry rough skin with scaling over
Sivayadevi, P
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EGFR Regulation of Epidermal Barrier Function [PDF]
, 2011 Keratinocyte terminal differentiation is the process that ultimately forms the epidermal barrier that is essential for mammals to survive in the ex utero environment.
Tran, Nhu Quynh T
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Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge. [PDF]
J Clin Med, 2021 Cantile T +7 more
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Mutations in KRT10 in epidermolytic acanthoma. [PDF]
J Cutan Pathol, 2020 Cheraghlou S +4 more
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