Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis
Author:
Funder
Higher Education Commission of Pakistan through Indigenous Ph.D. Fellowship Scheme
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference7 articles.
1. Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene;Louhichi;Mol Biol Rep,2013
2. Autosomal recessive congenital ichthyosis;Rodríguez-Pazos;Actas Dermosifiliogr,2013
3. Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in Sorèze 2009;Oji;J Am Acad Dermatol,2010
4. Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis;Zambrano;Int J Dermatol,2014
5. Characterization of TGM1 c. 984+ 1G> A mutation identified in a homozygous carrier of lamellar ichthyosis;Fachal;Int J Dermatol,2012
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2. Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family;Medicina;2023-01-02
3. The Skin and the Eyes;Atlas of Dermatology, Dermatopathology and Venereology;2021-10-31
4. The Skin and the Eyes;Atlas of Dermatology, Dermatopathology and Venereology;2020
5. Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation;Frontiers in Pediatrics;2019-02-21
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