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The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.
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A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family.
Biochem Biophys Res Commun. 2007 Apr 6;355(2):312-7. doi: 10.1016/j.bbrc.2007.01.129. Epub 2007 Feb 2.
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Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.
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Triphalangeal thump, thumb duplication, and syndactyly: The first case report in the literature.
Medicine (Baltimore). 2022 Oct 21;101(42):e31237. doi: 10.1097/MD.0000000000031237.

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Surgical Reconstruction for the Triphalangeal Thumb.
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Wassel VI Thumb Duplication With Triphalangeal Radial and Ulnar Thumbs: Anatomy and Surgical Reconstruction.
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2
Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.
Am J Med Genet A. 2020 Sep;182(9):2117-2123. doi: 10.1002/ajmg.a.61757. Epub 2020 Jul 14.
3
Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes.
J Med Genet. 2020 Oct;57(10):660-663. doi: 10.1136/jmedgenet-2019-106685. Epub 2020 Mar 16.
4
Polydactyly.
Am J Obstet Gynecol. 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023.
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Value of routine ultrasound examination at 35-37 weeks' gestation in diagnosis of fetal abnormalities.
Ultrasound Obstet Gynecol. 2020 Jan;55(1):75-80. doi: 10.1002/uog.20857. Epub 2019 Oct 8.
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Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Lancet. 2019 Feb 23;393(10173):758-767. doi: 10.1016/S0140-6736(18)32042-7. Epub 2019 Jan 31.
7
A multidisciplinary review of triphalangeal thumb.
J Hand Surg Eur Vol. 2019 Jan;44(1):59-68. doi: 10.1177/1753193418803521. Epub 2018 Oct 14.
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Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.
Genet Med. 2017 Nov;19(11):1207-1216. doi: 10.1038/gim.2017.33. Epub 2017 May 18.

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