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

doi:10.1080/13816810.2024.2303690

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Article

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

Ophthalmic genetics - 1 Jun 2024

Gupta Shifali, Kumari Anu, Daniel Roshan, Yangzes Sonam, Srivastava Priyanka, Kaur Anupriya

Abstract excerpt

BACKGROUND: Variations in ZNF469 have been associated with Brittle Cornea Syndrome that presents with bluish sclera, loss of vision after trivial trauma, arachnodactyly, and joint laxity. MATERIALS AND METHODS: Detailed medical and family history, physical examination, and molecular analysis. RESULTS: A 21-year-old female presented with bluish discoloration of sclera, diminution of vision following trivial trauma...

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Identifiers

PMID: 38289830
DOI: 10.1080/13816810.2024.2303690

Genes

ZNF469

Variants

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PubMed metadata and Literature Corpus relationships.