The Association of an Epibulbar Dermoid and Duane Syndrome in a Patient with aSALL1Mutation (Townes-Brocks Syndrome)
Author:
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.1080/13816810802354224
Reference9 articles.
1. Townes-Brocks syndrome: twenty novelSALL1 mutations in sporadic and familial cases and refinement of theSALL1 hot spot region
2. Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome
3. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype
4. Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome
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1. Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes–Brocks Syndrome;Genes;2023-01-19
2. Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report;World Journal of Clinical Cases;2022-07-16
3. Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature;American Journal of Medical Genetics Part A;2021-01-13
4. Epigenetic modification of SALL1 as a novel biomarker for the prognosis of early stage head and neck cancer;Journal of Cancer;2018
5. Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations (‘STAR’) syndrome;Ophthalmic Genetics;2016-02-16
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