Biallelic novel variants in <i>ZNF469</i> causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient-Reference-Cited by-同舟云学术

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Biallelic novel variants in ZNF469 causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient

Published:2024-01-30 Issue:3 Volume:45 Page:294-298
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Gupta Shifali¹,Kumari Anu²,Daniel Roshan¹,Yangzes Sonam³,Srivastava Priyanka¹,Kaur Anupriya¹

Affiliation:

1. Department of Paediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

2. Department of Clinical Hematology and Medical Oncology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

3. Department of Ophthalmology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2303690

Reference11 articles.

1. Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

3. Brittle Cornea

4. The 2017 international classification of the Ehlers-Danlos syndromes

5. Mapping of a Gene Causing Brittle Cornea Syndrome in Tunisian Jews to 16q24

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