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Article

Autosomal Recessive Stickler Syndrome.

Genes - 24 Jun 2022

Nixon Thomas R W, Richards Allan J, Martin Howard, Alexander Philip, Snead Martin P

Abstract excerpt

Stickler syndrome (SS) is a genetic disorder with manifestations in the eye, ear, joints, face and palate. Usually inherited in a dominant fashion due to heterozygous pathogenic variants in the collagen genes COL2A1 and COL11A1, it can rarely be inherited in a recessive fashion from variants in COL9A1, COL9A2, and COL9A3, COL11A1, as well as the non-collagen genes LRP2, LOXL3 and GZF1. We review the published...

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Source

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Identifiers

PMID: 35885918
DOI: 10.3390/genes13071135
PMCID: PMC9324312

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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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