G28 A Novel Missense Mutation in Keratin 1 Underlying Clinically Mild Epidermolytic Ichthyosis Mimicking Epidermolysis Bullosa Simplex Superficialis [PDF]
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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis [PDF]
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The role of MBTPS2 in epidermal proliferation and differentiation - [PDF]
Thesis. M.Sc. American University of Beirut. Department of Biochemistry and Molecular Genetics. Faculty of Medicine 2015. W 4 B193r 2015Advisor: Dr. Mazen Kurban, Associate Professor, Department of Biochemistry and Molecular Genetics.
Ballout, Farah Rabih,
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Epidermolytic ichthyosis due to a de novo missense mutation c.1307T> C; p.Leu436Pro in KRT10 [PDF]
M. Kuske +8 more
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Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma [PDF]
Caproni, M.
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Epidermolytic ichthyosis caused by KRT10 parental cutaneous‐gonadal mosaicism: a call for prospective genetic diagnosis [PDF]
Deyu Song +4 more
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379 Recessive epidermolytic ichthyosis results from loss of KRT10 expression, regardless of the mutation location [PDF]
Dan Vodo +5 more
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