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Article

Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype.

Ophthalmology. Retina - 1 May 2020

Breazzano Mark P, Tsang Stephen H, Tezel Tongalp H

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Identifiers

PMID: 32381255
DOI: 10.1016/j.oret.2020.01.007

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Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype.PMID 32381255Read ↗

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Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.Semantic proximity Read ↗

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Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.Semantic proximity Read ↗

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