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Ophthalmic Genetics Volume 38, 2017 - Issue 6
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Letters to the Journal

A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature

Claudio GrazianoMedical Genetics Unit, Policlinico S. Orsola-Malpighi, Bologna, ItalyCorrespondence[email protected]
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Elena GussonUniversity Eye Clinic, Pediatric Ophtalmology Service, Department of Neurosciences, Biomedicine and Movement, University of Verona, Verona, ItalyView further author information
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Giulia SeveriMedical Genetics Unit, Policlinico S. Orsola-Malpighi, Bologna, ItalyView further author information
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Federica IsidoriMedical Genetics Unit, Policlinico S. Orsola-Malpighi, Bologna, ItalyView further author information
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Anita WischmeijerClinical Genetics Service, Department of Pediatrics, Regional Hospital of South Tyrol, Bolzano, ItalyView further author information
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Milena BrugnaraDepartment of Pediatrics, University of Verona, Verona, ItalyView further author information
,
Marco SeriMedical Genetics Unit, Policlinico S. Orsola-Malpighi, Bologna, ItalyView further author information
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Cesare RossiMedical Genetics Unit, Policlinico S. Orsola-Malpighi, Bologna, ItalyView further author information
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Pages 590-592 | Published online: 04 May 2017

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A. Kocaaga, S. Yimenicioglu, Y. Özdemir Atikel & O. Özkale Yavuz. (2023) First report of tethered cord syndrome in a patient with Verheij syndrome. Ophthalmic Genetics 44:4, pages 396-400.
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Articles from other publishers (11)

H. Grimes, M. Ansari, T. Ashraf, Anna Mª. Cueto‐González, A. Calder, M. Day, P. Fernandez Alvarez, A. Foster, N. Lahiri, G. M. Repetto, I. Scurr, V. Varghese & Karen J. Low. (2023) PUF60 ‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants . American Journal of Medical Genetics Part A 191:10, pages 2610-2622.
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Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic, Carolyn Jane Ellaway, Caitlin Forwood, Michael Stephen Hildebrand, Smitha Kumble, Colina McKeown, David Mowat, Gemma Poke, Sulekha Rajagopalan, Brigid M. Regan, Ingrid Eileen Scheffer, Zornitza Stark, Chloe Alice Stutterd, Tiong Yang Tan, Ella Jane Wilkins, Alison Yeung & Matthew Frank Hunter. (2022) The diverse pleiotropic effects of spliceosomal protein PUF60 : A case series of Verheij syndrome . American Journal of Medical Genetics Part A 188:12, pages 3432-3447.
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Jerome Ezan, Maité M. Moreau, Tamrat M. Mamo, Miki Shimbo, Maureen Decroo, Melanie Richter, Ronan Peyroutou, Rivka Rachel, Fadel Tissir, Froylan Calderon de Anda, Nathalie Sans & Mireille Montcouquiol. (2021) Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activity. Scientific Reports 11:1.
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Xenia Latypova, Xiao Dang, Jianguo Zhang & Bertrand Isidor. (2021) Letter regarding the article “two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability” (Isidor et al., 2015). European Journal of Medical Genetics 64:4, pages 104179.
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Patricia Haug, Samuel Koller, Jordi Maggi, Elena Lang, Silke Feil, Agnès Wlodarczyk, Luzy Bähr, Katharina Steindl, Marianne Rohrbach, Christina Gerth-Kahlert & Wolfgang Berger. (2021) Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes. Genes 12:1, pages 65.
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文颖 李. (2021) PUF60 Gene Mutation Caused Verheij Syndrome in a Case and Literature Review. Advances in Clinical Medicine 11:03, pages 1026-1032.
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Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi & Kenjiro Kosaki. (2020) Protein elongation variant of PUF60 : Milder phenotypic end of the Verheij syndrome . American Journal of Medical Genetics Part A 182:11, pages 2709-2714.
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Kevin H. Yoon, Sabrina C. Fox, Renée Dicipulo, Ordan J. Lehmann & Andrew J. Waskiewicz. (2020) Ocular coloboma: Genetic variants reveal a dynamic model of eye development. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 184:3, pages 590-610.
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Aman George, Tiziana Cogliati & Brian P. Brooks. (2020) Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. Experimental Eye Research 193, pages 107940.
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Ebba Alkhunaizi & Nancy Braverman. (2019) Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndrome . American Journal of Medical Genetics Part A 179:1, pages 130-133.
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Qiong Xu, Chun-yang Li, Yi Wang, Hui-ping Li, Bing-bing Wu, Yong-hui Jiang & Xiu Xu. (2018) Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature. BMC Medical Genomics 11:1.
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