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Ophthalmic Genetics Volume 29, 2008 - Issue 4
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Mutation Report

The Association of an Epibulbar Dermoid and Duane Syndrome in a Patient with a SALL1 Mutation (Townes-Brocks Syndrome)

John S. Barry Department of Ophthalmology, Royal London Hospital, Whitechapel, London
&
M. Ashwin Reddy Department of Ophthalmology, Royal London Hospital, Whitechapel, London
Pages 177-180 | Received 10 Jul 2008, Accepted 18 Jul 2008, Published online: 08 Jul 2009

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Faruk H. Orge, Suhail A. Dar, Christie N. Blackburn, Sarah J. Grimes-Hodges & Anna L. Mitchell. (2016) Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations (‘STAR’) syndrome. Ophthalmic Genetics 37:3, pages 323-327.
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Carolyn P. Graeber, David G. Hunter & Elizabeth C. Engle. (2013) The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease. Seminars in Ophthalmology 28:5-6, pages 427-437.
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Articles from other publishers (9)

Anna Maria Innoceta, Giulia Olivucci, Giulia Parmeggiani, Emanuela Scarano, Antonella Pragliola & Claudio Graziano. (2023) Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes–Brocks Syndrome. Genes 14:2, pages 258.
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Jia-Xi Fang, Jin-Shi Zhang, Min-Min Wang & Lin Liu. (2022) Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report . World Journal of Clinical Cases 10:20, pages 7068-7075.
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Olivia Beaudoux, Anne‐Sophie Lebre, Martine Doco Fenzy, Marta Spodenkiewicz, Eric Canivet, Charlotte Colosio & Céline Poirsier. (2021) Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature . American Journal of Medical Genetics Part A 185:3, pages 937-944.
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Michael C. BrodskyMichael C. Brodsky. 2016. Pediatric Neuro-Ophthalmology. Pediatric Neuro-Ophthalmology 325 391 .
Luis Carlos Ferreira de Sá. 2013. Pediatric Ophthalmology and Strabismus. Pediatric Ophthalmology and Strabismus 1040 1044 .
Gabriëlle H. S. Buitendijk, Henriët Springelkamp, Lintje Ho & Caroline C. W. Klaver. 2013. Ophthalmology and the Ageing Society. Ophthalmology and the Ageing Society 57 82 .
Erin M. Miller, Robert Hopkin, Liming Bao & Stephanie M. Ware. (2012) Implications for genotype–phenotype predictions in Townes–Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature . American Journal of Medical Genetics Part A 158A:3, pages 533-540.
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Jacob Péer & Shahar Frenkel. 2012. McKee's Pathology of the Skin. McKee's Pathology of the Skin 1268 1295 .
Richard A. Sturm & Mats Larsson. (2009) Genetics of human iris colour and patterns. Pigment Cell & Melanoma Research 22:5, pages 544-562.
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