Journal of Peking University (Health Sciences) ›› 2021, Vol. 53 ›› Issue (3): 590-593. doi: 10.19723/j.issn.1671-167X.2021.03.025
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WU Jing-hengΔ(),TIAN Guang-lei,TIAN Meng-meng,CHEN Shan-lin
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[1] |
Ezaki M, Beckwith T, Oishi SN. Macrodactyly: decision-making and surgery timing, involving both hands and both feet[J]. J Hand Surg Eur, 2019,44(1):32-42.
doi: 10.1177/1753193418796441 |
[2] | 武竞衡, 陈山林, 田光磊, 等. 单纯性巨指(趾)症PIK3CA基因突变位点研究[J]. 中华外科杂志, 2018,56(7):538-542. |
[3] | 武竞衡, 田光磊, 赵俊会, 等. 73例巨指(趾)畸形患者临床疗效分析[J]. 中华外科杂志, 2008,46(7):514-518. |
[4] |
Kalen V, Burwell DS, Omer GE. Macrodactyly of the hands and feet[J]. J Pediatr Orthop, 1988,8(3):311-315.
doi: 10.1097/01241398-198805000-00011 |
[5] |
Barsky AJ. Macrodactyly[J]. J Bone Joint Surg Am, 1967,49(7):1255-1266.
pmid: 4293291 |
[6] |
Ofodile FA, Oluwasanmi J. Pedal macrodactyly: report of seven cases[J]. East Afr Med J, 1979,56(6):283-287.
pmid: 467302 |
[7] |
Khanna N, Gupta S, Khanna S, et al. Macrodactyly[J]. Hand, 1975,7(3):215-222.
pmid: 1205357 |
[8] |
Gluck JS, Ezaki M. Surgical treatment of macrodactyly[J]. J Hand Surg Am, 2015,40(7):1461-1468.
doi: 10.1016/j.jhsa.2015.04.017 |
[9] |
Ishida O, Ikuta Y. Long-term results of surgical treatment for macrodactyly of the hand[J]. Plast Reconstr Surg, 1998,102(5):1586-1590.
pmid: 9774014 |
[10] |
Ezaki M. Insights into the pathogenesis of macrodactyly[J]. J Hand Surg Eur Vol, 2019,44(1):25-31.
doi: 10.1177/1753193418790928 |
[11] |
Cerrato F, Eberlin KR, Waters P, et al. Presentation and treatment of macrodactyly in children[J]. J Hand Surg Am, 2013,38(11):2112-2123.
doi: 10.1016/j.jhsa.2013.08.095 |
[12] |
Hucthagowder V, Shenoy A, Corliss M, et al. Utility of clinical high depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum[J]. Clin Genet, 2017,91(1):79-85.
doi: 10.1111/cge.2017.91.issue-1 |
[13] | Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, et al. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum[J]. Am J Med Genet A, 2014,164A(7):1713-1733. |
[14] |
Freed D, Eric L, Stevens EL, et al. Somatic mosaicism in the human genome[J]. Genes, 2014,5(4):1064-1094.
doi: 10.3390/genes5041064 |
[15] |
Keppler-Noreuil KM, Parker VE, Darling TN, et al. Somatic overgro wth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies[J]. Am J Med Genet C Semin Med Genet, 2016,172(4):402-421.
doi: 10.1002/ajmg.c.31531 |
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