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The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.
Mol Genet Genomics. 2022 Sep;297(5):1343-1352. doi: 10.1007/s00438-022-01921-2. Epub 2022 Jul 11.
Mol Genet Genomics. 2022.
PMID: 35821352
Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?
Baas M, Potuijt JWP, Hovius SER, Hoogeboom AJM, Galjaard RH, van Nieuwenhoven CA.
Baas M, et al. Among authors: potuijt jwp.
Am J Med Genet A. 2017 Nov;173(11):2898-2905. doi: 10.1002/ajmg.a.38398. Epub 2017 Sep 10.
Am J Med Genet A. 2017.
PMID: 28889454
Free PMC article.
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Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes.
Potuijt JWP, Hoogeboom J, de Graaff E, van Nieuwenhoven CA, Galjaard RJH.
Potuijt JWP, et al.
J Med Genet. 2020 Oct;57(10):660-663. doi: 10.1136/jmedgenet-2019-106685. Epub 2020 Mar 16.
J Med Genet. 2020.
PMID: 32179704
Free PMC article.
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A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.
Potuijt JWP, Baas M, Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, Gallagher R, Swagemakers SM, Hovius SER, van Nieuwenhoven CA, Galjaard RH, van der Spek PJ, Ahituv N, de Klein A.
Potuijt JWP, et al.
Genet Med. 2018 Nov;20(11):1405-1413. doi: 10.1038/gim.2018.18. Epub 2018 Mar 15.
Genet Med. 2018.
PMID: 29543231
Free article.
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Triphalangeal thumb: clinical features and treatment.
Hovius SER, Potuijt JWP, van Nieuwenhoven CA.
Hovius SER, et al. Among authors: potuijt jwp.
J Hand Surg Eur Vol. 2019 Jan;44(1):69-79. doi: 10.1177/1753193418797922. Epub 2018 Sep 17.
J Hand Surg Eur Vol. 2019.
PMID: 30223699
Free PMC article.
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A multidisciplinary review of triphalangeal thumb.
Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER.
Potuijt JWP, et al.
J Hand Surg Eur Vol. 2019 Jan;44(1):59-68. doi: 10.1177/1753193418803521. Epub 2018 Oct 14.
J Hand Surg Eur Vol. 2019.
PMID: 30318985
Free PMC article.
Review.
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It all begins with the phenotype.
Potuijt JWP, Galjaard RH, van Nieuwenhoven CA.
Potuijt JWP, et al.
Genet Med. 2020 Apr;22(4):817-818. doi: 10.1038/s41436-019-0724-6. Epub 2019 Dec 11.
Genet Med. 2020.
PMID: 31822851
Free article.
No abstract available.
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