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Article

Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.

PloS one - 1 Jan 2026

Sharma Ravinder, Yadav Kiran, Gupta Vikas, Arora Anchal, Yadav Vikas

Abstract excerpt

Stickler syndrome is a collection of hereditary conditions that impact connective tissue, mainly collagen, and can cause a variety of symptoms, such as joint and bone abnormalities, hearing loss, and visual impairments. Previous studies suggest that mutations in the collagen-encoding genes are a primary cause of SS. These mutations can be inherited from parents to offspring and may vary significantly in terms of...

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Identifiers

PMID: 41719287
DOI: 10.1371/journal.pone.0343405
PMCID: PMC12922992

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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