Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis-Reference-Cited by-同舟云学术

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Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis

Published:2019-10 Issue:4 Volume:28 Page:184-189
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Kulkarni Nainesha,Lloyd Ian C.,Ashworth Jane,Biswas Susmito,Black Graeme C.M.,Clayton-Smith Jill

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference10 articles.

1. A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.;Abarca Barriga;Am J Med Genet A,2018

2. Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance.;Haddad;Am J Med Genet,2001

3. Ultrasound biomicroscopy demonstrating etiology of a spontaneous filtering bleb.;Khouri;Eye (Lond),2006

4. Analysis of protein-coding genetic variation in 60,706 humans.;Lek;Nature,2016

5. Anterior segment imaging and treatment of a case with syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism.;Mansour;Case Rep Ophthalmol,2013

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort;Gene;2024-10

2. A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype–Phenotype Correlations;Genes;2024-08-25

3. Biological encirclage–Traboulsi syndrome;Indian Journal of Ophthalmology;2024-06-22

4. Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families;Investigative Opthalmology & Visual Science;2024-01-08

5. Potential ASPH-Related Ectopia Lentis;Journal of Neuro-Ophthalmology;2023-10-12

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