[1] |
Gorlin RJ, Anderson RC, Blaw M. Multiple lentigenes syndrome[J]. Am J Dis Child, 1969,117(6):652⁃662. doi: 10.1001/archpedi. 1969.02100030654006.
|
[2] |
Wang Y, Chen C, Wang DW. Leopard syndrome caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene in a sporadic case of Chinese Han[J]. Int J Cardiol, 2014,174(3):e101⁃e104. doi: 10.1016/j.ijcard.2014.04.161.
|
[3] |
Osawa R, Akiyama M, Yamanaka Y, et al. A novel PTPN11 missense mutation in a patient with LEOPARD syndrome[J]. Br J Dermatol, 2009,161(5):1202⁃1204. doi: 10.1111/j.1365⁃2133. 2009.09385.x.
|
[4] |
Du⁃Thanh A, Cave H, Bessis D, et al. A novel PTPN11 gene mutation in a patient with LEOPARD syndrome[J]. Arch Dermatol, 2007,143(9):1210⁃1211. doi: 10.1001/archderm.143. 9.1210.
|
[5] |
Martínez⁃Quintana E, Rodríguez⁃González F. LEOPARD syndrome: clinical features and gene mutations[J]. Mol Syndromol, 2012,3(4):145⁃157. doi: 10.1159/000342251.
|
[6] |
Nishi E, Mizuno S, Nanjo Y, et al. A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines[J]. Am J Med Genet A, 2015,167A(2):407⁃411. doi: 10.1002/ajmg.a.36842.
|
[7] |
Athota JP, Bhat M, Nampoothiri S, et al. Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations[J]. BMC Med Genet, 2020,21(1):50. doi: 10. 1186/s12881⁃020⁃0986⁃5.
|
[8] |
Voron DA, Hatfield HH, Kalkhoff RK. Multiple lentigines syndrome. Case report and review of the literature[J]. Am J Med, 1976,60(3):447⁃456. doi: 10.1016/0002⁃9343(76)90764⁃6.
|
[9] |
Alfurayh N, Alsaif F, Alballa N, et al. LEOPARD syndrome with PTPN11 gene mutation in three family members presenting with different phenotypes[J]. J Pediatr Genet, 2020,9(4):246⁃251. doi: 10.1055/s⁃0039⁃3400226.
|
[10] |
杭霏, 樊朝关. LEOPARD综合征[J]. 中华心血管病杂志, 2016,44(12):1006⁃1009. doi: 10.3760/cma.j.issn.0253⁃3758. 2016.12.003.
|
[11] |
臧东杰, 许星海, 周城, 等. LEOPARD综合征一例PTPN11基因突变研究[J]. 中华皮肤科杂志, 2015,48(6):429⁃430. doi: 10.3760/cma.j.issn.0412⁃4030.2015.06.017.
|
[12] |
余时娟, 王华. LEOPARD综合征一例[J]. 中华皮肤科杂志, 2018,51(12):908. doi: 10.3760/cma.j.issn.0412⁃4030.2018.12. 015.
|
[13] |
郭敏, 李书聆, 李锐洁, 等. 一个LEOPARD综合征小家系临床表型及遗传学特征分析[J]. 听力学及言语疾病杂志, 2018,26(4):358⁃361. doi: 10.3969/j.issn.1006⁃7299.2018.04.006.
|
[14] |
Sarkozy A, Digilio MC, Dallapiccola B. Leopard syndrome[J]. Orphanet J Rare Dis, 2008,3:13. doi: 10.1186/1750⁃1172⁃3⁃13.
|