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

• Principais autores: Sami Raja Alallasi (Autor), Amal A. Kokandi (Autor), Babajan Banagnapali (Autor), Noor Ahmad Shaik (Autor), Bandar Ali Al-Shehri (Autor), Nuha Mohammad Alrayes (Autor), Jumana Yousuf Al-Aama (Autor), Musharraf Jelani (Autor)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2019-02-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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,...