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Ophthalmic Genetics Volume 36, 2015 - Issue 3
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Research Reports

Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome

Melissa Machado VianaServiço Especial de Genética Médica, Hospital das Clínicas, Universidade Federal de Minas Gerais, Correspondence[email protected]
,
Maria FrassonServiço de Retina, Hospital São Geraldo, Universidade Federal de Minas Gerais,
,
Henrique GalvãoServiço Especial de Genética Médica, Hospital das Clínicas, Universidade Federal de Minas Gerais,
,
Letícia Lima LeãoServiço Especial de Genética Médica, Hospital das Clínicas, Universidade Federal de Minas Gerais,
,
Martin StofankoNúcleo de Genética Médica (GENE), Minas Gerais, and
,
Higgor Gonçalves-DornelasNúcleo de Genética Médica (GENE), Minas Gerais, and
,
Pricila da Silva CunhaDepartamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Brazil
&
Marcos José Burle de AguiarServiço Especial de Genética Médica, Hospital das Clínicas, Universidade Federal de Minas Gerais,
show all
Pages 234-238 | Received 21 Oct 2013, Accepted 07 Dec 2013, Published online: 13 Jan 2014

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Mohammad Javed Ali. (2021) Lacrimal drainage system anomalies in Williams-Beuren syndrome. Orbit 40:2, pages 159-161.
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Marco Nassisi, Claudia Mainetti, Andrea Aretti, Andrea Sperti, Valeria Nicotra, Berardo Rinaldi, Federica Natacci, Maria Francesca Bedeschi & Francesco Viola. (2023) Ocular features in Williams-Beuren syndrome: a review of the literature. Current Opinion in Ophthalmology.
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Laryssa A Huryn, Taylor Flaherty, Rosalie Nolen, Lev Prasov, Wadih M Zein, Catherine A Cukras, Sharon Osgood, Neelam Raja, Mark D Levin, Susan Vitale, Brian P Brooks, Robert B Hufnagel & Beth A Kozel. (2022) Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome. British Journal of Ophthalmology, pages bjophthalmol-2022-321103.
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Dimitrios Karamichos, Paulina Escandon, Brenda Vasini, Sarah E. Nicholas, Lyly Van, Deanna H. Dang, Rebecca L. Cunningham & Kamran M. Riaz. (2022) Anterior pituitary, sex hormones, and keratoconus: Beyond traditional targets. Progress in Retinal and Eye Research 88, pages 101016.
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C. Calleja-García, A. Muñoz-Gallego, A. Dorado-López-Rosado, C. López-López & P. Tejada-Palacios. (2022) Ophthalmological manifestations in 6 patients diagnosed with Williams-Beuren syndrome and literature review. Archivos de la Sociedad Española de Oftalmología (English Edition) 97:5, pages 276-280.
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C. Calleja-García, A. Muñoz-Gallego, A. Dorado-López-Rosado, C. López-López & P. Tejada-Palacios. (2022) Manifestaciones oftalmológicas en 6 pacientes con síndrome de Williams-Beuren y revisión de la literatura. Archivos de la Sociedad Española de Oftalmología 97:5, pages 276-280.
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Mohammad Javed Ali. (2021) Updates on congenital lacrimal drainage anomalies and their association with syndromes and systemic disorders: A major review. Annals of Anatomy - Anatomischer Anzeiger 233, pages 151613.
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Fadi Khazzam, Ashraf Gad & Muhammad Dilawar. (2020) Williams-Beuren syndrome presenting as pulmonary edema with pleural effusion: a new pulmonary manifestation of elastin vasculopathy. Neonatology Today 15:9, pages 48-53.
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Fuat BUĞRUL & Fahrettin DUYMUŞ. (2019) Süt Çocukluğu Döneminde Tanı Alan Wıllıams-Beuren Sendromu Vakası: Erken Tanının ÖnemiThe case of williams-beuren syndrome diagnosed in infancy : the importance of early diagnosis. Journal of Contemporary Medicine 9:3, pages 301-304.
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Simina CiuricăMarilucy Lopez-Sublet, Bart L. LoeysIbtissem Radhouani, Nalin NatarajanMiikka Vikkula, Angela H.E.M. MaasDavid AdlamAlexandre Persu. (2019) Arterial Tortuosity. Hypertension 73:5, pages 951-960.
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