A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis–lymphedema–telangiectasia syndrome by Whole Exome Sequencing
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology
Reference12 articles.
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2. Sox18 induces development of the lymphatic vasculature in mice;Francois;Nature,2008
3. VEGFD regulates blood vascular development by modulating SOX18 activity;Duong;Blood,2014
4. Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice;Pennisi;Nat. Genet.,2000
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1. Hypotrichosis-Lymphoedema-Telangiectasia Syndrome: Brief Report and Literature Review;Indian Journal of Postgraduate Dermatology;2024-01-02
2. Hypotrichosis-Lymphedema-Telangiectasia Syndrome (HLTS);Genetic Syndromes;2023
3. Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome;European Journal of Medical Genetics;2022-11
4. A Case with Hypotrichosis-Lymphedema-Telangiectasia Syndrome with Hair Shaft Fragility;Skin Appendage Disorders;2022
5. Heterogeneity in biomarkers, mitogenome and genetic disorders of Arab population with special emphasis on large-scale whole-exome sequencing;Archives of Medical Science;2021-12-27
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