Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld–Rieger syndrome: case report and review of literature-Reference-Cited by-同舟云学术

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Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld–Rieger syndrome: case report and review of literature

Published:2023-05-01 Issue:3 Volume:32 Page:124-128
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Hong Ashley Shuen Ying¹,Lim Jiin Ying²,Isa Mas Suhaila³,Liew Wendy Kein-Meng⁴,Tan Barrie⁵,Ho Ching Lin⁶,Leo Seo Wei⁷,Jamuar Saumya Shekhar¹²

Affiliation:

1. Yong Loo Lin School of Medicine, National University of Singapore

2. Genetics Service, Department of Paediatrics, KK Women’s and Children’s Hospital

3. Kinder Clinic

4. Wendy Liew Paediatric Clinic and Child Neurology Centre

5. Barrie Tan ENT Head & Neck Surgery

6. Singapore National Eye Centre

7. Dr Leo Adult and Paediatric Eye Specialist Pte Ltd, Singapore, Singapore

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

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

Reference9 articles.

1. Axenfeld-Rieger syndrome in the age of molecular genetics.;Alward;Am J Ophthalmol,2000

2. Axenfeld-Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report.;Cazzolla;Head Face Med,2022

3. Molecular mechanisms of retinal ganglion cell degeneration in glaucoma and future prospects for cell body and axonal protection.;Munemasa;Front Cell Neurosci,2012

4. PITX2 and FOXC1 spectrum of mutations in ocular syndromes.;Reis;Eur J Hum Genet,2012

5. Axenfeld-Rieger syndrome.;Seifi;Clin Genet,2018

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