Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference16 articles.
1. A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing;Bastaki;Mol. Cell. Probes,2016
2. Hypotrichosis-lymphedema-telangiectasia syndrome: report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum;Coulie;Am. J. Med. Genet.,2021
3. Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?;Glade;Eur. J. Dermatol.,2001
4. Cutaneous telangiectasias, sparse hair, and type I membranoproliferative glomerulonephritis;Gupta;Pediatr. Nephrol.,1999
5. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia;Irrthum;Am. J. Hum. Genet.,2003
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships;Genes;2023-01-14
2. Hypotrichosis-Lymphedema-Telangiectasia Syndrome (HLTS);Genetic Syndromes;2023
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