Whole-exome sequencing for diagnosis of hereditary ichthyosis
Author:
Affiliation:
1. Department of Dermatology; Oslo University Hospital; Oslo Norway
2. Centre for Rare Disorders; Oslo University Hospital; Oslo Norway
3. Department of Medical Genetics; Oslo University Hospital; Oslo Norway
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.14870/fullpdf
Reference15 articles.
1. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009;Oji;J Am Acad Dermatol,2010
2. Inherited ichthyosis: non-syndromic forms;Takeichi;J Dermatol,2016
3. Inherited ichthyosis: syndromic forms;Yoneda;J Dermatol,2016
4. Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing;Saito;Br J Dermatol,2017
5. Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases;Scott;J Invest Dermatol,2013
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1. Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort;International Journal of Molecular Sciences;2024-06-13
2. Investigating the Genetic Cause of Ichthyosis Disease in a Family with Exome Sequencing;Gene, Cell and Tissue;2024-06-10
3. French national protocol for the management of congenital ichthyosis;Annales de Dermatologie et de Vénéréologie;2024-03
4. Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis;Archives of Dermatological Research;2023-12-07
5. TFIIH central activity in nucleotide excision repair to prevent disease;DNA Repair;2023-12
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