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Article

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.

Molecular genetics & genomic medicine - 1 Oct 2021

Wu Hong, Che Songtian, Li Shuchun, Cheng Yan, Xiao Jun, Liu Zaoxia

Abstract excerpt

BACKGROUND: Stickler syndrome is a group of connective tissue disorders that can affect eye (myopia, cataract, and retinal detachment), skeleton (spondyloepiphyseal dysplasia and precocious arthritis), craniofacies (midfacial under development and cleft palate), and inner ear (conductive and sensorineural); with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, COL11A2, COL9A1,...

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Identifiers

PMID: 34405586
DOI: 10.1002/mgg3.1781
PMCID: PMC8580100

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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