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Ophthalmic Genetics Volume 31, 2010 - Issue 4
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Original Article

Congenital cataracts in two siblings with Wolfram Syndrome

Rebecca B. MetsDepartment of Ophthalmology, Northwestern University, Chicago, Illinois, USA
,
Sarah B. EmeryDivision of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan, USA
,
Marci M. LesperanceDivision of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan, USA
&
Marilyn B. MetsDepartment of Ophthalmology, Northwestern University, Chicago, Illinois, USACorrespondence[email protected]
Pages 227-229 | Received 27 Apr 2010, Accepted 11 Aug 2010, Published online: 11 Nov 2010

Citations (10)

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Oscar Chacón-Camacho, Rocio Arce-Gonzalez, Mariella Granillo-Alvarez, Sanjuanita Flores-Limas, Magdalena Ramírez & Juan C. Zenteno. (2013) Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion. Ophthalmic Genetics 34:4, pages 243-248.
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Articles from other publishers (9)

Cansu de Muijnck, Jacoline B. ten Brink, Arthur A. Bergen, Camiel J.F. Boon & Maria M. van Genderen. (2023) Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum. Survey of Ophthalmology 68:4, pages 641-654.
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Anna Kabanovski, Laura Donaldson & Edward Margolin. (2022) Neuro-ophthalmological manifestations of Wolfram syndrome: Case series and review of the literature. Journal of the Neurological Sciences 437, pages 120267.
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Aya Abu‐El‐Haija, Caroline McGowan, Deborah Vanderveen & Olaf Bodamer. (2020) Autosomal‐dominant WFS1 ‐related disorder—Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms . American Journal of Medical Genetics Part A 185:2, pages 528-533.
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Roanne Karzon, Anagha Narayanan, Ling Chen, Judith E. C. Lieu & Tamara Hershey. (2018) Longitudinal hearing loss in Wolfram syndrome. Orphanet Journal of Rare Diseases 13:1.
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Masafumi Kobayashi, Maiko Miyagawa, Shin-ya Nishio, Hideaki Moteki, Taro Fujikawa, Kenji Ohyama, Hirofumi Sakaguchi, Ikuyo Miyanohara, Akiko Sugaya, Yasushi Naito, Shin-ya Morita, Yukihiko Kanda, Masahiro Takahashi, Kotaro Ishikawa, Yuki Nagano, Tetsuya Tono, Chie Oshikawa, Chiharu Kihara, Haruo Takahashi, Yoshihiro Noguchi & Shin-ichi Usami. (2018) WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis. PLOS ONE 13:3, pages e0193359.
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Maryam Sobhani, Mohammad Amin Tabatabaiefar, Asadollah Rajab, Abdol-Mohammad Kajbafzadeh & Mohammad Reza Noori-Daloii. (2014) Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families. Molecular Biology Reports 41:11, pages 7499-7505.
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Salah Mohamed Cherif Titah, Isabelle Meunier, Catherine Blanchet, Severine Lopez, Gerard Rondouin, Guy Lenaers, Patrizia Amati-Bonneau, Pascal Reynier, Veronique Paquis-Flucklinger & Christian P. Hamel. (2018) Cataract as a Phenotypic Marker for a Mutation in WFS1 , the Wolfram Syndrome Gene . European Journal of Ophthalmology 22:2, pages 254-258.
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Anya A. Trumler. (2011) Evaluation of pediatric cataracts and systemic disorders. Current Opinion in Ophthalmology 22:5, pages 365-379.
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Nanna D. Rendtorff, Marianne Lodahl, Houda Boulahbel, Ida R. Johansen, Arti Pandya, Katherine O. Welch, Virginia W. Norris, Kathleen S. Arnos, Maria Bitner‐Glindzicz, Sarah B. Emery, Marilyn B. Mets, Toril Fagerheim, Kristina Eriksson, Lars Hansen, Helene Bruhn, Claes Möller, Sture Lindholm, Stefan Ensgaard, Marci M. Lesperance & Lisbeth Tranebjaerg. (2011) Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment . American Journal of Medical Genetics Part A 155:6, pages 1298-1313.
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