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Ophthalmic Genetics Volume 42, 2021 - Issue 1
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Research Reports

A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome

Sirisha Senthila VST Centre for Glaucoma Care, LV Prasad Eye Institute, Hyderabad, IndiaView further author information
,
Sarmeela Sharmab Prof Brien Holden Eye Research Centre, LV Prasad Eye Institute, Hyderabad, IndiaView further author information
,
Sushma Vishwakarmab Prof Brien Holden Eye Research Centre, LV Prasad Eye Institute, Hyderabad, IndiaView further author information
&
Inderjeet Kaurb Prof Brien Holden Eye Research Centre, LV Prasad Eye Institute, Hyderabad, IndiaCorrespondence[email protected] [email protected]
View further author information
Pages 28-34 | Received 28 Jul 2020, Accepted 04 Oct 2020, Published online: 29 Nov 2020

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Felipe L. Lima, Sebastião Cronemberger, Anna L. B. Albuquerque, Luciana F. Barbosa, Francine R. Cunha, Artur W. Veloso, Alberto Diniz-Filho, Eitan Friedman & luiz De Marco. (2023) Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant. Ophthalmic Genetics 44:4, pages 366-370.
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Tom Van Hoorde, Fanny Nerinckx, Elke Kreps, Dimitri Roels, Philippe Huyghe, Mattias Van Heetvelde, Hannah Verdin, Elfride De Baere, Irina Balikova & Bart P. Leroy. (2021) Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH. Ophthalmic Genetics 42:4, pages 493-499.
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Articles from other publishers (2)

Prakash Chermakani & Periasamy Sundaresan. (2023) Traboulsi syndrome: A rare eye disease and its genetic association. TNOA Journal of Ophthalmic Science and Research 61:1, pages 41.
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Gabriela Jones, Katie Johnson, Jacqueline Eason, Mark Hamilton, Deborah Osio, Farah Kanani, Julia Baptista & Mohnish Suri. (2022) Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome. European Journal of Medical Genetics 65:10, pages 104572.
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