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3 articles related to "Lamellar Ichthyosis"

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Articles

Case Report

Published on 21 Feb 2019

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

in Genetics of Common and Rare Diseases

Sami Raja Alallasi
Amal A. Kokandi
Babajan Banagnapali
Noor Ahmad Shaik
Bandar Ali Al-Shehri
Nuha Mohammad Alrayes
Jumana Yousuf Al-Aama
Musharraf Jelani

Frontiers in Pediatrics

doi 10.3389/fped.2019.00044

5,397 views
9 citations

Original Research

Published on 19 Nov 2025

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis

in Autoimmune and Autoinflammatory Disorders : Autoimmune Disorders

Asena Pinar Sefer
Mehmet Cihangir Catak
Isa An
Necmiye Keser Ozturk
Leyla Baykal Selcuk
Oguz Salih Dincer
Mehdi Benamar
Feven Getachew
Klaus Schmitz-Abe
Pankaj B. Agrawal

Frontiers in Immunology

doi 10.3389/fimmu.2025.1662858

1,657 views

Original Research

Published on 19 Dec 2024

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay

in Genetics of Common and Rare Diseases

Linyan Zhu
Rui Zhou
Lianxiao Zhang
Mei Chen
Shengmin Zhang
Xiaxi Huang
Yubo Shi
Huiqing Ding

Frontiers in Pediatrics

doi 10.3389/fped.2024.1505924

1,846 views