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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.
PLoS One. 2023 Dec 28;18(12):e0295851. doi: 10.1371/journal.pone.0295851. eCollection 2023.
PLoS One. 2023.
PMID: 38153936
Free PMC article.
A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.
Hitti-Malin RJ, Burmeister LM, Lingaas F, Kaukonen M, Pettinen I, Lohi H, Sargan D, Mellersh CS.
Hitti-Malin RJ, et al. Among authors: pettinen i.
Genes (Basel). 2021 Nov 8;12(11):1771. doi: 10.3390/genes12111771.
Genes (Basel). 2021.
PMID: 34828377
Free PMC article.
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A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.
Kaukonen M, Pettinen IT, Wickström K, Arumilli M, Donner J, Juhola IJ, Holopainen S, Turunen JA, Yoshihara M, Kere J, Lohi H.
Kaukonen M, et al. Among authors: pettinen it.
Hum Genet. 2021 Nov;140(11):1569-1579. doi: 10.1007/s00439-021-02266-3. Epub 2021 Feb 19.
Hum Genet. 2021.
PMID: 33606121
Free PMC article.
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