Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation
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DOI: 10.3389/fped.2019.00044
Abstract: 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… read more here.
Keywords: tgm1 gene; compound heterozygous; gene; lamellar ichthyosis ... See more keywords