| [1] |
Grada AA, Phillips TJ. Lymphedema: Pathophysiology and clinical manifestations[J]. J Am Acad Dermatol, 2017, 77(6):1009-1020. doi: 10.1016/j.jaad.2017.03.022.
pmid: 29132848
|
| [2] |
Kearney HM, Thorland EC, Brown KK, et al. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants[J]. Genet Med, 2011, 13(7):680-685. doi: 10.1097/GIM.0b013e3182217a3a.
pmid: 21681106
|
| [3] |
Rockson SG. Addressing the unmet needs in lymphedema risk management[J]. Lymphat Res Biol, 2006, 4(1):42-46. doi: 10.1089/lrb.2006.4.42.
pmid: 16569207
|
| [4] |
Brouillard P, Boon L, Vikkula M. Genetics of lymphatic anomalies[J]. J Clin Invest, 2014, 124(3):898-904. doi: 10.1172/JCI71614.
pmid: 24590274
|
| [5] |
Halbleib JM, Nelson WJ. Cadherins in development: cell adhesion, sorting, and tissue morphogenesis[J]. Genes Dev, 2006, 20(23):3199-3214. doi: 10.1101/gad.1486806.
|
| [6] |
Chen Z, Luo S, Liu ZG, et al. CELSR1 variants are associated with partial epilepsy of childhood[J]. Am J Med Genet B Neuropsychiatr Genet, 2022, 189(7/8):247-256. doi: 10.1002/ajmg.b.32916.
|
| [7] |
Theis JL, Niaz T, Sundsbak RS, et al. CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome[J]. Circ Genom Precis Med, 2022, 15(2):e003523. doi: 10.1161/CIRCGEN.121.003523.
|
| [8] |
Brzóska HŁ, d′Esposito AM, Kolatsi-Joannou M, et al. Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning[J]. Kidney Int, 2016, 90(6):1274-1284. doi: 10.1016/j.kint.2016.07.011.
pmid: 27597235
|
| [9] |
Tatin F, Taddei A, Weston A, et al. Planar cell polarity protein Celsr1 regulates endothelial adherens junctions and directed cell rearrangements during valve morphogenesis[J]. Dev Cell, 2013, 26(1):31-44. doi: 10.1016/j.devcel.2013.05.015.
pmid: 23792146
|
| [10] |
Xia S, Liu Z, Yan H, et al. Lymphedema complicated by protein-losing enteropathy with a 22q13.3 deletion and the potential role of CELSR1: A case report[J]. Medicine(Baltimore), 2021, 100(24):e26307. doi: 10.1097/MD.0000000000026307.
|
| [11] |
Maltese PE, Michelini S, Ricci M, et al. Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants[J]. Am J Med Genet A, 2019, 179(9):1718-1724. doi: 10.1002/ajmg.a.61269.
pmid: 31215153
|
| [12] |
Gonzalez-Garay ML, Aldrich MB, Rasmussen JC, et al. A novel mutation in CELSR1 is associated with hereditary lymphedema[J]. Vasc Cell, 2016, 8:1. doi: 10.1186/s13221-016-0035-5.
|
| [13] |
Seo SH, Lee S, Park JK, et al. Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing[J]. Sci Rep, 2022, 12(1):13591. doi: 10.1038/s41598-022-17958-7.
pmid: 35948757
|
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