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Year | Number of Results |
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2015 | 1 |
2018 | 1 |
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A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations.
Neurogenetics. 2015 Oct;16(4):287-98. doi: 10.1007/s10048-015-0452-2. Epub 2015 Jul 11.
Neurogenetics. 2015.
PMID: 26163108
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
Leduc MS, Mcguire M, Madan-Khetarpal S, Ortiz D, Hayflick S, Keller K, Eng CM, Yang Y, Bi W.
Leduc MS, et al.
Hum Genet. 2018 Mar;137(3):257-264. doi: 10.1007/s00439-018-1877-0. Epub 2018 Mar 19.
Hum Genet. 2018.
PMID: 29556724
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Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM; University of Washington Center for Mendelian Genomics; Semina EV.
Reis LM, et al.
Clin Genet. 2021 Mar;99(3):437-442. doi: 10.1111/cge.13897. Epub 2020 Dec 16.
Clin Genet. 2021.
PMID: 33314030
Free PMC article.
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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB.
Chowdhury F, et al.
Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6.
Genet Med. 2021.
PMID: 33824499
Free article.
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