Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation
Background: Lamellar ichthyosis is an autosomal recessive type of rare skin disorders characterized with defective epidermis leading hyperkeratosis with brownish-gray scales over the body. These patients are born as collodion babies and may also exhibit additional features like erythema, ectropion,...
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Main Authors: | , , , , , , , |
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Format: | Book |
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Frontiers Media S.A.,
2019-02-01T00:00:00Z.
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Call Number: |
A1234.567 |
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Copy 1 | Available |