The pZRS non-coding regulatory mutation resulting in triphalangeal thumb–polysyndactyly syndrome changes the pattern of local interactions
Author:
Funder
Narodowe Centrum Nauki
Narodowa Agencja Wymiany Akademickiej
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00438-022-01921-2.pdf
Reference43 articles.
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2. Balci S, Demirtas M, Civelek B, Piskin M, Sensoz O, Akarsu AN (1999) Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36. Am J Med Genet 87(5):399–406
3. Davis CA, Hitz BC, Sloan CA, Chan ET, Davidson JM, Gabdank I et al (2018) The Encyclopedia of DNA elements (ENCODE): data portal update. Nucleic Acids Res 46(D1):D794–D801. https://doi.org/10.1093/nar/gkx1081
4. Dixon JR, Selvaraj S, Yue F, Kim A, Li Y, Shen Y, Hu M, Liu JS, Ren B (2012) Topological domains in mammalian genomes identified by analysis of chromatin interactions. Nature 485(7398):376–380. https://doi.org/10.1038/nature11082
5. ENCODE Project Consortium (2012) An integrated encyclopedia of DNA elements in the human genome. Nature 489(7414):57–74. https://doi.org/10.1038/nature11247
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Genetic Analysis of Preaxial Polydactyly: Identification of Novel Mutations and the Role of ZRS Duplications in a Chinese Cohort of 102 cases;2024-08-11
2. Neglected bilateral triphalangeal of the thumb delta type in adult case: A case report;International Journal of Surgery Case Reports;2024-01
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