Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

• 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)
• Format: Book
• Published: Frontiers Media S.A., 2019-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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,...