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A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.
Genes (Basel). 2021 Nov 8;12(11):1771. doi: 10.3390/genes12111771.
Genes (Basel). 2021.
PMID: 34828377
Free PMC article.
Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1.
Stanbury K, Stavinohova R, Pettitt L, Dixon C, Schofield EC, Mclaughlin B, Pettinen I, Lohi H, Ricketts SL, Oliver JA, Mellersh CS.
Stanbury K, et al. Among authors: pettinen i.
PLoS One. 2023 Dec 28;18(12):e0295851. doi: 10.1371/journal.pone.0295851. eCollection 2023.
PLoS One. 2023.
PMID: 38153936
Free PMC article.
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