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

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, Amal A. Kokandi, Babajan Banagnapali, Noor Ahmad Shaik, Bandar Ali Al-Shehri, Nuha Mohammad Alrayes, Jumana Yousuf Al-Aama, Musharraf Jelani
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Pediatrics
Subjects:
lamellar ichthyosis
exome sequencing
transglutaminase 1 gene
novel compound heterozygous
Saudi Arabia
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00044/full

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https://www.frontiersin.org/article/10.3389/fped.2019.00044/full

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