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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.
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.
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.
The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.
Potuijt JWP, Sowinska-Seidler A, Bukowska-Olech E, Nguyen P, Jankowski A, Magielsen F, Matuszewska K, van Nieuwenhoven CA, Galjaard RH, de Klein A, Jamsheer A. Potuijt JWP, et al. 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
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.