A novel 5 bp homozygous deletion mutation in ASPH gene associates with Traboulsi syndrome
Author:
Affiliation:
1. Glaucoma services, Aravind Eye Hospital, Coimbatore, Tamil Nadu, India
2. Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, India
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1605390
Reference8 articles.
1. A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism
2. Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance
3. Anterior Segment Imaging and Treatment of a Case with Syndrome of Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
4. Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome
5. A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome
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1. Traboulsi syndrome: A rare eye disease and its genetic association;TNOA Journal of Ophthalmic Science and Research;2023
2. Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome;European Journal of Medical Genetics;2022-10
3. Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH;Ophthalmic Genetics;2021-05-21
4. Comments on: Recurrent unintentional filtering blebs after vitrectomy;Indian Journal of Ophthalmology;2021
5. A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome;Ophthalmic Genetics;2020-11-29
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