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Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
Mol Genet Genomic Med. 2021 May;9(5):e1628. doi: 10.1002/mgg3.1628. Epub 2021 May 5.
Mol Genet Genomic Med. 2021.
PMID: 33951325
Free PMC article.
PURPOSE: Stickler syndrome is a collagenopathy that is typically COL2A1-related (autosomal dominant) and less commonly related to other collagen gene mutations. ...Ophthalmologists who see such children should suspect Stickler syndrome, even in the absence of overt …
PURPOSE: Stickler syndrome is a collagenopathy that is typically COL2A1-related (autosomal dominant) and less commonly related …
Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
Yi Z, Sun W, Xiao X, Li S, Jia X, Li X, Yu B, Wang P, Zhang Q.
Yi Z, et al.
Exp Eye Res. 2021 Jul;208:108637. doi: 10.1016/j.exer.2021.108637. Epub 2021 May 26.
Exp Eye Res. 2021.
PMID: 34048777
Variants in GUCY2D constitute the most common cause of LCA and autosomal dominant CORD (ADCORD). The purpose of this study was to reveal novel variants and document associated phenotypes of patients with GUCY2D-associated retinopathy. ...Among the detected 52 PPVs, …
Variants in GUCY2D constitute the most common cause of LCA and autosomal dominant CORD (ADCORD). The purpose of this study was …
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