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: | Sami Raja Alallasi (Author), Amal A. Kokandi (Author), Babajan Banagnapali (Author), Noor Ahmad Shaik (Author), Bandar Ali Al-Shehri (Author), Nuha Mohammad Alrayes (Author), Jumana Yousuf Al-Aama (Author), Musharraf Jelani (Author) |
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Format: | Book |
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Frontiers Media S.A.,
2019-02-01T00:00:00Z.
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Online Access: | Connect to this object online. |
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